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Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
Synonyms: Immune deficiency
 
HPO: HP:0002721

Conditions with this feature

Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency van Eyck et al., 2014).
Immunodeficiency with hyper IgM type 1
MedGen UID:
96019
Concept ID:
C0398689
Disease or Syndrome
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG and IgA and normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity are frequently impaired. Antigen-specific responses may be decreased or absent. The range of clinical findings varies, even within the same family. Over 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections, and recurrent or protracted diarrhea associated with failure to thrive. Neutropenia, thrombocytopenia, and anemia are common. Autoimmune and/or inflammatory disorders, such as sclerosing cholangitis, have been reported. Significant neurologic complications, often the result of a CNS infection, are seen in 10%-15% of affected males. Liver disease, including primary cirrhosis and carcinomas (bile duct carcinomas, hepatocellular carcinomas, adenocarcinomas of the liver and gall bladder), and tumors of the gastrointestinal tract (carcinoid of the pancreas, glucagonoma of the pancreas) are common life-threatening complications in adolescents and young adults with HIGM1. Affected males are also at an increased risk for lymphoma, particularly Hodgkin's disease associated with Epstein-Barr virus infection.
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
MedGen UID:
140770
Concept ID:
C0398788
Disease or Syndrome
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008). Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome ICF2 (614069) is caused by mutation in the ZBTB24 gene (614064) on chromosome 6q21.
Arts syndrome
MedGen UID:
163205
Concept ID:
C0796028
Disease or Syndrome
Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings.
Dyskeratosis congenita X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Progeroid short stature with pigmented nevi
MedGen UID:
224702
Concept ID:
C1261128
Disease or Syndrome
Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).
Immunodeficiency with hyper IgM type 2
MedGen UID:
354548
Concept ID:
C1720956
Disease or Syndrome
Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
Immunodeficiency with hyper IgM type 3
MedGen UID:
328419
Concept ID:
C1720957
Disease or Syndrome
HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM. For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
Immunodeficiency with hyper IgM type 5
MedGen UID:
328420
Concept ID:
C1720958
Disease or Syndrome
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
Neutrophil chemotactic response
MedGen UID:
320281
Concept ID:
C1834174
Disease or Syndrome
Immunodeficiency, X-linked, with deficiency of 115,000 dalton surface glycoprotein
MedGen UID:
326624
Concept ID:
C1839982
Disease or Syndrome
Immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
MedGen UID:
326693
Concept ID:
C1840265
Disease or Syndrome
Immune deficiency, familial variable
MedGen UID:
374426
Concept ID:
C1840266
Disease or Syndrome
Neutrophil immunodeficiency syndrome
MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Immunodeficiency with hyper IgM type 4
MedGen UID:
330847
Concept ID:
C1842413
Disease or Syndrome
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003). For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
IRAK4 deficiency
MedGen UID:
375137
Concept ID:
C1843256
Disease or Syndrome
IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see IL1R1; 147810) immunity, except for the TLR3 (603029)- and TLR4-interferon-alpha (IFNA; 147660)/beta (IFNB; 147640) pathways (Ku et al., 2007).
Immunodeficiency without anhidrotic ectodermal dysplasia
MedGen UID:
337162
Concept ID:
C1845117
Disease or Syndrome
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
MedGen UID:
337348
Concept ID:
C1845919
Disease or Syndrome
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.
Hypohidrotic ectodermal dysplasia with immune deficiency
MedGen UID:
375786
Concept ID:
C1846006
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist.
Interleukin 2 receptor, alpha, deficiency of
MedGen UID:
377894
Concept ID:
C1853392
Disease or Syndrome
Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013).
Immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes
MedGen UID:
340957
Concept ID:
C1855762
Disease or Syndrome
Hepatic venoocclusive disease with immunodeficiency
MedGen UID:
344659
Concept ID:
C1856128
Disease or Syndrome
Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by (1) primary immunodeficiency and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifest as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T cells, absent lymph node germinal centers, and absent tissue plasma cells. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur. In the past the prognosis for affected individuals was poor, with 100% mortality in the first year of life if unrecognized and untreated with intravenous immunoglobulin (IVIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment there is a marked improvement in prognosis.
Immunodeficiency due to defect in cd3-zeta
MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
Candidiasis, familial, 2
MedGen UID:
347128
Concept ID:
C1859353
Disease or Syndrome
Immunodeficiency due to defect in cd3-epsilon
MedGen UID:
348830
Concept ID:
C1861284
Disease or Syndrome
Immunodeficiency due to defect in CD3-gamma
MedGen UID:
348318
Concept ID:
C1861297
Disease or Syndrome
Hyperzincemia with functional zinc depletion
MedGen UID:
356415
Concept ID:
C1865986
Disease or Syndrome
Lymphoproliferative syndrome 1, X-linked
MedGen UID:
358381
Concept ID:
C1868674
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) is caused by mutations in SH2D1A and XIAP (BIRC4). XLP may also occur in rare instances with no identified underlying genetic cause. The three most commonly recognized phenotypes of SH2D1A-related XLP are hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection (58% of individuals), dysgammaglobulinemia (31%), and lymphoproliferative disorders (malignant lymphoma) (30%). Manifestations of SH2D1A-related XLP, including HLH, can also occur in the absence of EBV. XIAP-related XLP also presents with HLH (often associated with EBV) or dysgammaglobulinemia, but no cases of lymphoma have been described to date. HLH resulting from EBV infection, sometimes referred to as severe infectious mononucleosis, is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Fulminant hepatitis, hepatic necrosis, and profound bone marrow failure are typical, resulting in mortality that is higher than 90%, though prompt recognition of the disorder and aggressive treatment interventions likely improve survival. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The prognosis is improved if affected males are managed with regular intravenous immunoglobulin (IVIG) therapy. The malignant lymphomas are typically high-grade B cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of ‘Greek warrior helmet’ appearance of the nose (wide bridge of the nose continuing to the forehead), microcephaly, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, downturned corners of the mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay/intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children with WHS. Other findings include skeletal anomalies (60%-70%), congenital heart defects (~50%), hearing loss (mostly conductive) (>40%), urinary tract malformations (25%), and structural brain abnormalities (33%).
Tyrosine kinase 2 deficiency
MedGen UID:
409751
Concept ID:
C1969086
Disease or Syndrome
Riddle syndrome
MedGen UID:
394368
Concept ID:
C2677792
Disease or Syndrome
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
MedGen UID:
440575
Concept ID:
C2748557
Disease or Syndrome
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
MedGen UID:
440578
Concept ID:
C2748568
Disease or Syndrome
Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).
Common variable immunodeficiency 1
MedGen UID:
460728
Concept ID:
C3149378
Disease or Syndrome
Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by Chapel et al., 2008, Conley et al., 2009, and Yong et al., 2009). Genetic Heterogeneity of Common Variable Immunodeficiency Common variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 (240500), caused by mutation in the TACI gene (TNFRSF13B; 604907); CVID3 (613493), caused by mutation in the CD19 gene (107265); CVID4 (613494), caused by mutation in the BAFFR gene (TNFRSF13C; 606269); CVID5 (613495), caused by mutation in the CD20 gene (112210); CVID6 (613496), caused by mutation in the CD81 gene (186845); CVID7 (614699), caused by mutation in the CD21 gene (CR2; 120650); CVID8 (614700), caused by mutation in the LRBA gene (606453); CVID10 (615577), caused by mutation in the NFKB2 gene (164012); and CVID11 (615767), caused by mutation in the IL21 gene (605384). The disorder formerly designated CVID9 has been found to be a form of autoimmune lymphoproliferative disorder; see ALPS3 (615559).
Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
MedGen UID:
461506
Concept ID:
C3150156
Disease or Syndrome
Common variable immunodeficiency 2
MedGen UID:
461704
Concept ID:
C3150354
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Common variable immunodeficiency 3
MedGen UID:
462088
Concept ID:
C3150738
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Common variable immunodeficiency 4
MedGen UID:
462089
Concept ID:
C3150739
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Common variable immunodeficiency 5
MedGen UID:
462090
Concept ID:
C3150740
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Common variable immunodeficiency 6
MedGen UID:
462091
Concept ID:
C3150741
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Immunodeficiency due to ficolin 3 deficiency
MedGen UID:
462576
Concept ID:
C3151226
Disease or Syndrome
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
MedGen UID:
477076
Concept ID:
C3275445
Disease or Syndrome
XMEN is an X-linked immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011).
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
MedGen UID:
481378
Concept ID:
C3279748
Disease or Syndrome
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011). See also ICF1 (242860), caused by mutation in the DNMT3B gene (602900). There are no apparent clinical differences between ICF1 and ICF2. However, cells from patients with ICF2 show hypomethylation of the alpha-satellite repeat on chromosome 9 (de Greef et al., 2011).
Immunodeficiency 31C
MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome
Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
MedGen UID:
481660
Concept ID:
C3280030
Disease or Syndrome
This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)).
Trichohepatoenteric syndrome 2
MedGen UID:
482919
Concept ID:
C3281289
Disease or Syndrome
Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012). For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (222470).
Common variable immunodeficiency 7
MedGen UID:
762276
Concept ID:
C3542922
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.
Common variable immunodeficiency 8, with autoimmunity
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
MedGen UID:
766857
Concept ID:
C3553943
Disease or Syndrome
STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012).
Facial dysmorphism, immunodeficiency, livedo, and short stature
MedGen UID:
767490
Concept ID:
C3554576
Disease or Syndrome
FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012).
CARD11 immunodeficiency
MedGen UID:
767600
Concept ID:
C3554686
Disease or Syndrome
Immunodeficiency-11 is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).
IL21R immunodeficiency
MedGen UID:
767601
Concept ID:
C3554687
Disease or Syndrome
IL21R immunodeficiency is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).
Activated PI3K-delta syndrome
MedGen UID:
811535
Concept ID:
C3714976
Disease or Syndrome
Immunodeficiency-14 is an autosomal dominant primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014).
Immunodeficiency 8
MedGen UID:
815713
Concept ID:
C3809383
Disease or Syndrome
Immunodeficiency 12
MedGen UID:
815913
Concept ID:
C3809583
Disease or Syndrome
Immunodeficiency 13
MedGen UID:
816098
Concept ID:
C3809768
Disease or Syndrome
Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by Gorska and Alam, 2012).
Common variable immunodeficiency 10
MedGen UID:
816321
Concept ID:
C3809991
Disease or Syndrome
Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Immunodeficiency 15
MedGen UID:
816373
Concept ID:
C3810043
Disease or Syndrome
Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).
Immunodeficiency 16
MedGen UID:
816383
Concept ID:
C3810053
Disease or Syndrome
Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013).
Immunodeficiency 17
MedGen UID:
816437
Concept ID:
C3810107
Disease or Syndrome
Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)).
Immunodeficiency 18
MedGen UID:
816457
Concept ID:
C3810127
Disease or Syndrome
Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).
Immunodeficiency 19
MedGen UID:
816477
Concept ID:
C3810147
Disease or Syndrome
Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).
Immunodeficiency 20
MedGen UID:
816672
Concept ID:
C3810342
Disease or Syndrome
Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).
Metaphyseal dysplasia without hypotrichosis
MedGen UID:
320444
Concept ID:
C1834821
Disease or Syndrome
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature which is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility and often fine silky hair, immunodeficiency, anemia, impaired spermatogenesis, gastrointestinal dysfunction, and increased risk for malignancy. The most severe phenotype (AD), which has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Griscelli syndrome type 3
MedGen UID:
373124
Concept ID:
C1836573
Disease or Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.
Inflammatory skin and bowel disease, neonatal 1
MedGen UID:
482131
Concept ID:
C3280501
Disease or Syndrome

Recent clinical studies

Etiology

Abolhassani H, Cheraghi T, Rezaei N, Aghamohammadi A, Hammarström L
J Investig Allergol Clin Immunol 2015;25(3):218-20. PMID: 26182690
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H
J Allergy Clin Immunol 2015 Jun;135(6):1569-77. Epub 2015 Feb 10 doi: 10.1016/j.jaci.2014.12.1939. [Epub ahead of print] PMID: 25678086Free PMC Article
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency
J Allergy Clin Immunol 2015 Apr;135(4):988-97.e6. Epub 2015 Jan 14 doi: 10.1016/j.jaci.2014.11.029. [Epub ahead of print] PMID: 25595268
Moreira J
Braz J Infect Dis 2015 Jan-Feb;19(1):77-81. Epub 2014 Jul 9 doi: 10.1016/j.bjid.2014.05.010. [Epub ahead of print] PMID: 25022567
Gammon B, Robson A, Deonizio J, Arkin L, Guitart J
J Am Acad Dermatol 2014 Sep;71(3):555-60. Epub 2014 May 9 doi: 10.1016/j.jaad.2014.03.028. [Epub ahead of print] PMID: 24813299

Diagnosis

Clément MC, Mahlaoui N, Mignot C, Le Bihan C, Rabetrano H, Hoang L, Neven B, Moshous D, Cavazzana M, Blanche S, Fischer A, Audrain M, Durand-Zaleski I
J Allergy Clin Immunol 2015 Jun;135(6):1589-93. Epub 2015 Apr 1 doi: 10.1016/j.jaci.2015.02.004. [Epub ahead of print] PMID: 25840725
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H
J Allergy Clin Immunol 2015 Jun;135(6):1569-77. Epub 2015 Feb 10 doi: 10.1016/j.jaci.2014.12.1939. [Epub ahead of print] PMID: 25678086Free PMC Article
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency
J Allergy Clin Immunol 2015 Apr;135(4):988-97.e6. Epub 2015 Jan 14 doi: 10.1016/j.jaci.2014.11.029. [Epub ahead of print] PMID: 25595268
Gonzalez MW, DeVico AL, Lewis GK, Spouge JL
J Virol 2015 Apr;89(7):3619-29. Epub 2015 Jan 14 doi: 10.1128/JVI.03235-14. [Epub ahead of print] PMID: 25589663Free PMC Article
Moreira J
Braz J Infect Dis 2015 Jan-Feb;19(1):77-81. Epub 2014 Jul 9 doi: 10.1016/j.bjid.2014.05.010. [Epub ahead of print] PMID: 25022567

Therapy

Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H
J Allergy Clin Immunol 2015 Jun;135(6):1569-77. Epub 2015 Feb 10 doi: 10.1016/j.jaci.2014.12.1939. [Epub ahead of print] PMID: 25678086Free PMC Article
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency
J Allergy Clin Immunol 2015 Apr;135(4):988-97.e6. Epub 2015 Jan 14 doi: 10.1016/j.jaci.2014.11.029. [Epub ahead of print] PMID: 25595268
Gonzalez MW, DeVico AL, Lewis GK, Spouge JL
J Virol 2015 Apr;89(7):3619-29. Epub 2015 Jan 14 doi: 10.1128/JVI.03235-14. [Epub ahead of print] PMID: 25589663Free PMC Article
Mangus LM, Dorsey JL, Laast VA, Hauer P, Queen SE, Adams RJ, McArthur JC, Mankowski JL
J Neuropathol Exp Neurol 2015 Jan;74(1):38-47. doi: 10.1097/NEN.0000000000000148. PMID: 25470348Free PMC Article
Touzot F, Hacein-Bey-Abina S, Fischer A, Cavazzana M
Expert Opin Biol Ther 2014 Jun;14(6):789-98. Epub 2014 Mar 8 doi: 10.1517/14712598.2014.895811. [Epub ahead of print] PMID: 24823313

Prognosis

Abolhassani H, Cheraghi T, Rezaei N, Aghamohammadi A, Hammarström L
J Investig Allergol Clin Immunol 2015;25(3):218-20. PMID: 26182690
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency
J Allergy Clin Immunol 2015 Apr;135(4):988-97.e6. Epub 2015 Jan 14 doi: 10.1016/j.jaci.2014.11.029. [Epub ahead of print] PMID: 25595268
Gonzalez MW, DeVico AL, Lewis GK, Spouge JL
J Virol 2015 Apr;89(7):3619-29. Epub 2015 Jan 14 doi: 10.1128/JVI.03235-14. [Epub ahead of print] PMID: 25589663Free PMC Article
Moreira J
Braz J Infect Dis 2015 Jan-Feb;19(1):77-81. Epub 2014 Jul 9 doi: 10.1016/j.bjid.2014.05.010. [Epub ahead of print] PMID: 25022567
Gammon B, Robson A, Deonizio J, Arkin L, Guitart J
J Am Acad Dermatol 2014 Sep;71(3):555-60. Epub 2014 May 9 doi: 10.1016/j.jaad.2014.03.028. [Epub ahead of print] PMID: 24813299

Clinical prediction guides

Abolhassani H, Cheraghi T, Rezaei N, Aghamohammadi A, Hammarström L
J Investig Allergol Clin Immunol 2015;25(3):218-20. PMID: 26182690
Gonzalez MW, DeVico AL, Lewis GK, Spouge JL
J Virol 2015 Apr;89(7):3619-29. Epub 2015 Jan 14 doi: 10.1128/JVI.03235-14. [Epub ahead of print] PMID: 25589663Free PMC Article
Bright PD, Rooney N, Virgo PF, Lock RJ, Johnston SL, Unsworth DJ
J Clin Pathol 2015 Jan;68(1):1-5. Epub 2014 Oct 28 doi: 10.1136/jclinpath-2014-202618. [Epub ahead of print] PMID: 25352642
Borte S, Celiksoy MH, Menzel V, Ozkaya O, Ozen FZ, Hammarström L, Yildiran A
Clin Immunol 2014 Oct;154(2):105-11. Epub 2014 Jul 23 doi: 10.1016/j.clim.2014.07.003. [Epub ahead of print] PMID: 25064839
Zhu H, Yuan J, Wang Y, Gao F, Wang X, Wei C, Chen J, Fan X, Zhang M
Braz J Infect Dis 2014 Sep-Oct;18(5):496-500. Epub 2014 May 10 doi: 10.1016/j.bjid.2014.02.007. [Epub ahead of print] PMID: 24819160

Recent systematic reviews

Gonzalez MW, DeVico AL, Lewis GK, Spouge JL
J Virol 2015 Apr;89(7):3619-29. Epub 2015 Jan 14 doi: 10.1128/JVI.03235-14. [Epub ahead of print] PMID: 25589663Free PMC Article
Gagnon A, Davies G, Wilson RD; Genetics Committee, Wilson RD, Audibert F, Brock JA, Campagnolo C, Carroll J, Chitaya DT, Gagnon A, Johnson JA, MacDonald W, Murphy-Kaulbeck L, Okun N, Pastuck M; Executive and Council of the Society of Obstetricians and Gynecologists of Canada
J Obstet Gynaecol Can 2014 Jul;36(7):648-55. PMID: 25184985
Borte S, Celiksoy MH, Menzel V, Ozkaya O, Ozen FZ, Hammarström L, Yildiran A
Clin Immunol 2014 Oct;154(2):105-11. Epub 2014 Jul 23 doi: 10.1016/j.clim.2014.07.003. [Epub ahead of print] PMID: 25064839
Hussein K, Rath B, Ludewig B, Kreipe H, Jonigk D
Eur J Cancer 2014 Sep;50(14):2417-24. Epub 2014 Jul 11 doi: 10.1016/j.ejca.2014.06.006. [Epub ahead of print] PMID: 25027306
Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, Veys PA, Davies EG, Jeggo PA, Jones A
Clin Immunol 2013 Dec;149(3):464-74. Epub 2013 Aug 27 doi: 10.1016/j.clim.2013.08.006. [Epub ahead of print] PMID: 24230999

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