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Pneumonia

MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Synonyms: Inflammation, Lung; Inflammation, Pulmonary; Inflammations, Lung; Inflammations, Pulmonary; Lung Inflammation; Lung Inflammations; Pneumonias; Pneumonitides; Pneumonitis; Pulmonary Inflammation; Pulmonary Inflammations
SNOMED CT: Pneumonitis (205237003); Pneumonia (233604007)
 
HPO: HP:0002090

Definition

Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you. -Have a high fever. -Have shaking chills. -Have a cough with phlegm that doesn't improve or gets worse. -Develop shortness of breath with normal daily activities. -Have chest pain when you breathe or cough. -Feel suddenly worse after a cold or the flu. Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPneumonia

Conditions with this feature

Kartagener syndrome
MedGen UID:
9615
Concept ID:
C0022521
Disease or Syndrome
Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. More than 75% of full-term neonates with PCD have ‘neonatal respiratory distress’ requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 40%-50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility.
Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
X-linked agammaglobulinemia
MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.
Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
De Lange syndrome
MedGen UID:
78752
Concept ID:
C0270972
Congenital Abnormality
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
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 See also ICF2 (614069), caused by mutation in the ZBTB24 gene (614064) on chromosome 6q21; ICF3 (616910), caused by mutation in the CDCA7 gene (609937) on chromosome 2q31; and ICF4 (616911), caused by mutation in the HELLS gene (603946) on chromosome 10q23.
Severe autosomal recessive muscular dystrophy of childhood - North African type
MedGen UID:
98045
Concept ID:
C0410173
Disease or Syndrome
Limb-girdle muscular dystrophy (LGMD) is a purely descriptive term, generally reserved for childhood- or adult-onset muscular dystrophies that are distinct from the much more common X-linked dystrophinopathies. LGMDs are typically nonsyndromic, with clinical involvement typically limited to skeletal muscle. Individuals with LGMD generally show weakness and wasting restricted to the limb musculature, proximal greater than distal, and muscle degeneration/regeneration on muscle biopsy. Most individuals with LGMD show relative sparing of the bulbar muscles, although exceptions occur, depending on the genetic subtype. Onset, progression, and distribution of the weakness and wasting vary considerably among individuals and genetic subtypes.
X-linked agammaglobulinemia with growth hormone deficiency
MedGen UID:
141630
Concept ID:
C0472813
Disease or Syndrome
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).
Cholesterol pneumonia
MedGen UID:
154291
Concept ID:
C0549472
Disease or Syndrome
Congenital disorder of glycosylation type 2C
MedGen UID:
162913
Concept ID:
C0796132
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996). Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.
Hereditary mucoepithelial dysplasia
MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis (review by Boralevi et al., 2005).
X-linked severe combined immunodeficiency
MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome
X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by a hemizygous pathogenic variant in IL2RG. In typical X-SCID lack of IL2RG function results in near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months with failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections. Males with atypical X-SCID may have immune dysregulation and autoimmunity associated with rashes, gastrointestinal malabsorption, and short stature.
Combined immunodeficiency, X-linked
MedGen UID:
310393
Concept ID:
C1706416
Disease or Syndrome
A form of combined immunodificiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA-CHAIN.
Idiopathic fibrosing alveolitis, chronic form
MedGen UID:
321462
Concept ID:
C1800706
Disease or Syndrome
Familial pulmonary fibrosis (FPF in this GeneReview) is defined as idiopathic interstitial pneumonia (IIP) in two or more first-degree relatives (parent, sib, or offspring). Up to 20% of cases of IIP cluster in families. The clinical findings of IIP are bibasilar reticular abnormalities, ground glass opacities, or diffuse nodular lesions on high-resolution computed tomography and abnormal pulmonary function studies that include evidence of restriction (reduced VC with an increase in FEV1/FVC ratio) and/or impaired gas exchange (increased P(A-a)O2 with rest or exercise or decreased diffusion capacity of the lung for carbon monoxide [DLCO]). FPF usually presents between ages 50 and 70 years. FPF may be complicated by lung cancer; bronchoalveolar cell carcinoma, small-cell carcinoma, and adenocarcinoma have been described.
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.In addition to immunodeficiency, children with Omenn syndrome develop autoimmunity, in which the immune system attacks the body's own tissues and organs. This abnormal immune reaction can cause very red skin (erythroderma), hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In addition, affected individuals have enlargement of tissues that produce infection-fighting white blood cells called lymphocytes. These include the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body.If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2.
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
MedGen UID:
321935
Concept ID:
C1832322
Disease or Syndrome
Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004). SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups. The most common form of SCID is X-linked T-, B+, NK- SCID (300400) caused by mutation in the IL2RG gene (308380) on chromosome Xq13.1. Autosomal recessive SCID includes T-, B+, NK- SCID (600802) caused by mutation in the JAK3 gene (600173) on 19p13.1; T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23; T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11; T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p; and T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (Kalman et al., 2004). Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (Schwarz et al., 1996; Fischer et al., 1997).
Wiskott-Aldrich syndrome, autosomal dominant form
MedGen UID:
322136
Concept ID:
C1833170
Disease or Syndrome
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
MedGen UID:
331474
Concept ID:
C1833275
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation
MedGen UID:
375009
Concept ID:
C1842763
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Simpson-Golabi-Behmel syndrome, type 2
MedGen UID:
337527
Concept ID:
C1846175
Disease or Syndrome
Caspase-8 deficiency
MedGen UID:
339548
Concept ID:
C1846545
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
Severe combined immunodeficiency, atypical
MedGen UID:
376544
Concept ID:
C1849236
Disease or Syndrome
ZAP70-related severe combined immunodeficiency (ZAP70-related SCID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections; diarrhea; and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT).
Muscular hypertonia, lethal
MedGen UID:
342600
Concept ID:
C1850827
Disease or Syndrome
Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
MedGen UID:
340877
Concept ID:
C1855470
Disease or Syndrome
Epstein Barr virus, chronic
MedGen UID:
347329
Concept ID:
C1856901
Disease or Syndrome
Severe combined immunodeficiency due to ADA deficiency
MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.
Severe combined immunodeficiency with sensitivity to ionizing radiation
MedGen UID:
355454
Concept ID:
C1865370
Disease or Syndrome
Pulmonary alveolar proteinosis acquired
MedGen UID:
410079
Concept ID:
C1970472
Disease or Syndrome
Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency.
Encephalopathy, acute, infection-induced, 3, suceptibility to
MedGen UID:
382634
Concept ID:
C2675556
Finding
Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE) caused by a heterozygous pathogenic variant in RANBP2. ANE refers to the specific neurologic presentation in which bilateral symmetric thalamic, midbrain, and/or hindbrain lesions occur within days following the onset of an acute viral illness caused by influenza A, influenza B, parainfluenza II, human herpes virus 6, coxsackie virus, or an enterovirus. Although most IIAE3 occurs before age six years, first episodes have been observed in teenagers and adults. ANE begins within 12 hours to three or four days of the first awareness of viral symptoms (fever, cough, rhinorrhea, vomiting, diarrhea, and malaise). The most common sign of ANE is lethargy that progresses to coma (which may last for weeks) and seizures (in 50%). One third of affected individuals die during the acute phase of the encephalopathy; of the survivors, one half have permanent neurologic damage and the remainder have no discernible residual symptoms. Fifty per cent of persons with IIAE3 will have at least one repeat episode and some will have multiple repeat episodes
Roifman-Chitayat syndrome
MedGen UID:
442377
Concept ID:
C2750068
Disease or Syndrome
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). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).
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).
Immunodeficiency 11
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).
Complement factor B deficiency
MedGen UID:
816280
Concept ID:
C3809950
Disease or Syndrome
TENORIO SYNDROME
MedGen UID:
864147
Concept ID:
C4015710
Disease or Syndrome

Recent clinical studies

Etiology

Yanagi S, Tsubouchi H, Miura A, Matsuo A, Matsumoto N, Nakazato M
Int J Mol Sci 2017 Feb 25;18(3) doi: 10.3390/ijms18030503. PMID: 28245616Free PMC Article
Montella S, Corcione A, Santamaria F
Int J Mol Sci 2017 Jan 29;18(2) doi: 10.3390/ijms18020296. PMID: 28146079Free PMC Article
Cugy E, Sibon I
J Stroke Cerebrovasc Dis 2017 Jan;26(1):225-229. Epub 2016 Nov 7 doi: 10.1016/j.jstrokecerebrovasdis.2016.09.015. PMID: 27839768
Chang PY, Tsao SM, Chang JH, Chien MH, Hung WY, Huang YW, Yang SF
Clin Chim Acta 2016 Dec 1;463:174-180. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.030. PMID: 27983998
Helmy TA, Abd-Elhady MA, Abdou M
J Stroke Cerebrovasc Dis 2016 Nov;25(11):2756-2761. Epub 2016 Aug 20 doi: 10.1016/j.jstrokecerebrovasdis.2016.07.030. PMID: 27554074

Diagnosis

Yanagi S, Tsubouchi H, Miura A, Matsuo A, Matsumoto N, Nakazato M
Int J Mol Sci 2017 Feb 25;18(3) doi: 10.3390/ijms18030503. PMID: 28245616Free PMC Article
Montella S, Corcione A, Santamaria F
Int J Mol Sci 2017 Jan 29;18(2) doi: 10.3390/ijms18020296. PMID: 28146079Free PMC Article
Otani K, Seo Y, Ogawa K
Int J Mol Sci 2017 Jan 27;18(2) doi: 10.3390/ijms18020281. PMID: 28134830Free PMC Article
Cugy E, Sibon I
J Stroke Cerebrovasc Dis 2017 Jan;26(1):225-229. Epub 2016 Nov 7 doi: 10.1016/j.jstrokecerebrovasdis.2016.09.015. PMID: 27839768
Chang PY, Tsao SM, Chang JH, Chien MH, Hung WY, Huang YW, Yang SF
Clin Chim Acta 2016 Dec 1;463:174-180. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.030. PMID: 27983998

Therapy

Taipale H, Tolppanen AM, Koponen M, Tanskanen A, Lavikainen P, Sund R, Tiihonen J, Hartikainen S
CMAJ 2017 Apr 10;189(14):E519-E529. doi: 10.1503/cmaj.160126. PMID: 28396328Free PMC Article
Marinello S, Marini G, Parisi G, Gottardello L, Rossi L, Besutti V, Cattelan AM
Infection 2017 Apr;45(2):237-240. Epub 2016 Nov 11 doi: 10.1007/s15010-016-0961-4. PMID: 27837335
Huang SF, Chang JS, Sheu CC, Liu YT, Lin YC
Int J Antimicrob Agents 2016 Sep;48(3):286-91. Epub 2016 Jul 5 doi: 10.1016/j.ijantimicag.2016.05.013. PMID: 27444117
Zhao G, Wu H, Jiang K, Rui G, Zhu Z, Qiu C, Guo M, Deng G
Int Immunopharmacol 2016 Jun;35:332-40. Epub 2016 Mar 23 doi: 10.1016/j.intimp.2016.02.016. PMID: 27025553
Momosaki R, Yasunaga H, Matsui H, Fushimi K, Abo M
J Stroke Cerebrovasc Dis 2016 May;25(5):1035-40. Epub 2016 Feb 4 doi: 10.1016/j.jstrokecerebrovasdis.2016.01.018. PMID: 26853142

Prognosis

Cugy E, Sibon I
J Stroke Cerebrovasc Dis 2017 Jan;26(1):225-229. Epub 2016 Nov 7 doi: 10.1016/j.jstrokecerebrovasdis.2016.09.015. PMID: 27839768
Chang PY, Tsao SM, Chang JH, Chien MH, Hung WY, Huang YW, Yang SF
Clin Chim Acta 2016 Dec 1;463:174-180. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.030. PMID: 27983998
Helmy TA, Abd-Elhady MA, Abdou M
J Stroke Cerebrovasc Dis 2016 Nov;25(11):2756-2761. Epub 2016 Aug 20 doi: 10.1016/j.jstrokecerebrovasdis.2016.07.030. PMID: 27554074
Yu YJ, Weng WC, Su FC, Peng TI, Chien YY, Wu CL, Lee KY, Wei YC, Lin SW, Zhu JX, Huang WY
J Clin Neurosci 2016 Nov;33:124-128. Epub 2016 Jul 16 doi: 10.1016/j.jocn.2016.02.039. PMID: 27436765
Colbert JF, Traystman RJ, Poisson SN, Herson PS, Ginde AA
J Stroke Cerebrovasc Dis 2016 Oct;25(10):2399-404. Epub 2016 Jun 28 doi: 10.1016/j.jstrokecerebrovasdis.2016.06.008. PMID: 27363622Free PMC Article

Clinical prediction guides

Otani K, Seo Y, Ogawa K
Int J Mol Sci 2017 Jan 27;18(2) doi: 10.3390/ijms18020281. PMID: 28134830Free PMC Article
Cugy E, Sibon I
J Stroke Cerebrovasc Dis 2017 Jan;26(1):225-229. Epub 2016 Nov 7 doi: 10.1016/j.jstrokecerebrovasdis.2016.09.015. PMID: 27839768
Chang PY, Tsao SM, Chang JH, Chien MH, Hung WY, Huang YW, Yang SF
Clin Chim Acta 2016 Dec 1;463:174-180. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.030. PMID: 27983998
Helmy TA, Abd-Elhady MA, Abdou M
J Stroke Cerebrovasc Dis 2016 Nov;25(11):2756-2761. Epub 2016 Aug 20 doi: 10.1016/j.jstrokecerebrovasdis.2016.07.030. PMID: 27554074
Yu YJ, Weng WC, Su FC, Peng TI, Chien YY, Wu CL, Lee KY, Wei YC, Lin SW, Zhu JX, Huang WY
J Clin Neurosci 2016 Nov;33:124-128. Epub 2016 Jul 16 doi: 10.1016/j.jocn.2016.02.039. PMID: 27436765

Recent systematic reviews

Montella S, Corcione A, Santamaria F
Int J Mol Sci 2017 Jan 29;18(2) doi: 10.3390/ijms18020296. PMID: 28146079Free PMC Article
Lassi ZS, Moin A, Bhutta ZA
Cochrane Database Syst Rev 2016 Dec 4;12:CD005978. doi: 10.1002/14651858.CD005978.pub3. PMID: 27915460
Tie HT, Tan Q, Luo MZ, Li Q, Yu JL, Wu QC
Br J Nutr 2016 Mar 14;115(5):807-16. Epub 2016 Jan 26 doi: 10.1017/S0007114515005449. PMID: 26811108
Liu D, Su LX, Guan W, Xiao K, Xie LX
Respirology 2016 Feb;21(2):280-8. Epub 2015 Dec 10 doi: 10.1111/resp.12704. PMID: 26662169Free PMC Article
Zhang X, Liu F
Clin Exp Med 2016 Aug;16(3):423-8. Epub 2015 May 16 doi: 10.1007/s10238-015-0356-3. PMID: 25982566

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