Display Settings:

Format

Send to:

Choose Destination

Asthma

MedGen UID:
505101
Concept ID:
CN001900
Finding
Synonyms: Bronchial asthma; bronchial asthma; Reactive airway disease
 
HPO: HP:0002099

Definition

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

Conditions with this feature

Allergic bronchopulmonary aspergillosis
MedGen UID:
428
Concept ID:
C0004031
Disease or Syndrome
Hypersensitivity reaction (ALLERGIC REACTION) to fungus ASPERGILLUS in an individual with long-standing BRONCHIAL ASTHMA. It is characterized by pulmonary infiltrates, EOSINOPHILIA, elevated serum IMMUNOGLOBULIN E, and skin reactivity to Aspergillus antigen.
Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile.
Dermatitis, atopic
MedGen UID:
41502
Concept ID:
C0011615
Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Mastocytosis
MedGen UID:
9902
Concept ID:
C0024899
Disease or Syndrome
A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepato-splenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Ichthyosis vulgaris
MedGen UID:
38217
Concept ID:
C0079584
Congenital Abnormality
The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.
Dubowitz's syndrome
MedGen UID:
59797
Concept ID:
C0175691
Congenital Abnormality
A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes.
Ehlers-Danlos syndrome, unspecified autosomal dominant
MedGen UID:
65083
Concept ID:
C0220679
Disease or Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Other forms of the condition may exist, but they have been reported only in single families or are not well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and many also affect the skin, features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Dislocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classic form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic shallow "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular and kyphoscoliosis types, can involve serious and potentially life-threatening complications. Blood vessels can tear (rupture) unpredictably, causing internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
Netherton syndrome
MedGen UID:
78578
Concept ID:
C0265962
Disease or Syndrome
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature. After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved. Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature. People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair. Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Congenital Abnormality
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens.
Prolidase deficiency
MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).
Deletion of long arm of chromosome 18
MedGen UID:
96605
Concept ID:
C0432443
Disease or Syndrome
A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is associated with short stature, hypotonia, mental retardation, and hand, foot, skull and facial abnormalities.
Bardet-Biedl syndrome
MedGen UID:
156019
Concept ID:
C0752166
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Potassium aggravated myotonia
MedGen UID:
156269
Concept ID:
C0752355
Disease or Syndrome
In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.
Stuve-Wiedemann syndrome
MedGen UID:
167109
Concept ID:
C0796176
Disease or Syndrome
Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36.1-p34.
Sudden infant death with dysgenesis of the testes syndrome
MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal. SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx). The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).
Single upper central incisor
MedGen UID:
326686
Concept ID:
C1840235
Disease or Syndrome
Ige responsiveness, atopic
MedGen UID:
327063
Concept ID:
C1840253
Disease or Syndrome
Roifman syndrome
MedGen UID:
375801
Concept ID:
C1846059
Disease or Syndrome
Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006).
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).
Peeling skin syndrome
MedGen UID:
336530
Concept ID:
C1849193
Disease or Syndrome
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin Syndrome Peeling skin syndrome-2 (PSS2; 609796), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (603805) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; 616265) is caused by mutation in the CHST8 gene (610190) on chromosome 19q13.
Asthma, short stature, and elevated iga
MedGen UID:
395313
Concept ID:
C1859647
Disease or Syndrome
Asthma, nasal polyps, and aspirin intolerance
MedGen UID:
347198
Concept ID:
C1859648
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.
Photosensitive trichothiodystrophy
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of Trichothiodystrophy Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); and TTD5 (300953), caused by mutation in the RNF113A gene (300951).
Asthma, susceptibility to
MedGen UID:
358271
Concept ID:
C1869116
Finding
Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006). See 147050 for information on the asthma-associated phenotype atopy.
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
MedGen UID:
369829
Concept ID:
C1968689
Disease or Syndrome
Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
MedGen UID:
369694
Concept ID:
C1970269
Disease or Syndrome
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families (summary by Thorwarth et al., 2014).
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
MedGen UID:
436369
Concept ID:
C2675184
Disease or Syndrome
Arthrogryposis, perthes disease, and upward gaze palsy
MedGen UID:
481939
Concept ID:
C3280309
Disease or Syndrome
Ichthyosis, spastic quadriplegia, and mental retardation
MedGen UID:
482486
Concept ID:
C3280856
Disease or Syndrome
This severe autosomal recessive disorder is characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).
Familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
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).
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).

Recent clinical studies

Etiology

Callander EJ, Schofield DJ
Ann Allergy Asthma Immunol 2015 May;114(5):374-8. Epub 2015 Mar 26 doi: 10.1016/j.anai.2015.02.017. [Epub ahead of print] PMID: 25817460
Sözener ZÇ, Aydın Ö, Mungan D, Mısırlıgil Z
Ann Allergy Asthma Immunol 2015 May;114(5):370-3. Epub 2015 Mar 12 doi: 10.1016/j.anai.2015.02.010. [Epub ahead of print] PMID: 25771154
Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D, Fletcher G, Mein CA, Hoti M, Walton R, Grigg J, Timms PM, Rajakulasingam RK, Bhowmik A, Rowe M, Venton TR, Choudhury AB, Simcock DE, Sadique Z, Monteiro WR, Corrigan CJ, Hawrylowicz CM, Griffiths CJ
Thorax 2015 May;70(5):451-7. Epub 2015 Feb 27 doi: 10.1136/thoraxjnl-2014-206449. [Epub ahead of print] PMID: 25724847
Szefler SJ
J Allergy Clin Immunol 2015 Mar;135(3):644-52. Epub 2015 Jan 30 doi: 10.1016/j.jaci.2014.12.1921. [Epub ahead of print] PMID: 25649079
Honkoop PJ, Loijmans RJ, Termeer EH, Snoeck-Stroband JB, van den Hout WB, Bakker MJ, Assendelft WJ, ter Riet G, Sterk PJ, Schermer TR, Sont JK; Asthma Control Cost-Utility Randomized Trial Evaluation (ACCURATE) Study Group
J Allergy Clin Immunol 2015 Mar;135(3):682-8.e11. Epub 2014 Aug 28 doi: 10.1016/j.jaci.2014.07.016. [Epub ahead of print] PMID: 25174865

Diagnosis

Wing R, Gjelsvik A, Nocera M, McQuaid EL
Ann Allergy Asthma Immunol 2015 May;114(5):379-84. Epub 2015 Apr 1 doi: 10.1016/j.anai.2015.02.019. [Epub ahead of print] PMID: 25843164
Sözener ZÇ, Aydın Ö, Mungan D, Mısırlıgil Z
Ann Allergy Asthma Immunol 2015 May;114(5):370-3. Epub 2015 Mar 12 doi: 10.1016/j.anai.2015.02.010. [Epub ahead of print] PMID: 25771154
Barochia AV, Kaler M, Cuento RA, Gordon EM, Weir NA, Sampson M, Fontana JR, MacDonald S, Moss J, Manganiello V, Remaley AT, Levine SJ
Am J Respir Crit Care Med 2015 May 1;191(9):990-1000. doi: 10.1164/rccm.201411-1990OC. PMID: 25692941Free PMC Article
Szefler SJ
J Allergy Clin Immunol 2015 Mar;135(3):644-52. Epub 2015 Jan 30 doi: 10.1016/j.jaci.2014.12.1921. [Epub ahead of print] PMID: 25649079
Honkoop PJ, Loijmans RJ, Termeer EH, Snoeck-Stroband JB, van den Hout WB, Bakker MJ, Assendelft WJ, ter Riet G, Sterk PJ, Schermer TR, Sont JK; Asthma Control Cost-Utility Randomized Trial Evaluation (ACCURATE) Study Group
J Allergy Clin Immunol 2015 Mar;135(3):682-8.e11. Epub 2014 Aug 28 doi: 10.1016/j.jaci.2014.07.016. [Epub ahead of print] PMID: 25174865

Therapy

Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D, Fletcher G, Mein CA, Hoti M, Walton R, Grigg J, Timms PM, Rajakulasingam RK, Bhowmik A, Rowe M, Venton TR, Choudhury AB, Simcock DE, Sadique Z, Monteiro WR, Corrigan CJ, Hawrylowicz CM, Griffiths CJ
Thorax 2015 May;70(5):451-7. Epub 2015 Feb 27 doi: 10.1136/thoraxjnl-2014-206449. [Epub ahead of print] PMID: 25724847
Barochia AV, Kaler M, Cuento RA, Gordon EM, Weir NA, Sampson M, Fontana JR, MacDonald S, Moss J, Manganiello V, Remaley AT, Levine SJ
Am J Respir Crit Care Med 2015 May 1;191(9):990-1000. doi: 10.1164/rccm.201411-1990OC. PMID: 25692941Free PMC Article
Szefler SJ
J Allergy Clin Immunol 2015 Mar;135(3):644-52. Epub 2015 Jan 30 doi: 10.1016/j.jaci.2014.12.1921. [Epub ahead of print] PMID: 25649079
American Lung Association–Asthma Clinical Research Centers' Writing Committee, Dixon AE, Castro M, Cohen RI, Gerald LB, Holbrook JT, Irvin CG, Mohapatra S, Peters SP, Rayapudi S, Sugar EA, Wise RA
J Allergy Clin Immunol 2015 Mar;135(3):701-9.e5. Epub 2014 Aug 28 doi: 10.1016/j.jaci.2014.06.038. [Epub ahead of print] PMID: 25174863Free PMC Article
O'Neill S, Sweeney J, Patterson CC, Menzies-Gow A, Niven R, Mansur AH, Bucknall C, Chaudhuri R, Thomson NC, Brightling CE, O'Neill C, Heaney LG; British Thoracic Society Difficult Asthma Network
Thorax 2015 Apr;70(4):376-8. Epub 2014 Jun 10 doi: 10.1136/thoraxjnl-2013-204114. [Epub ahead of print] PMID: 24917087

Prognosis

Sözener ZÇ, Aydın Ö, Mungan D, Mısırlıgil Z
Ann Allergy Asthma Immunol 2015 May;114(5):370-3. Epub 2015 Mar 12 doi: 10.1016/j.anai.2015.02.010. [Epub ahead of print] PMID: 25771154
Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D, Fletcher G, Mein CA, Hoti M, Walton R, Grigg J, Timms PM, Rajakulasingam RK, Bhowmik A, Rowe M, Venton TR, Choudhury AB, Simcock DE, Sadique Z, Monteiro WR, Corrigan CJ, Hawrylowicz CM, Griffiths CJ
Thorax 2015 May;70(5):451-7. Epub 2015 Feb 27 doi: 10.1136/thoraxjnl-2014-206449. [Epub ahead of print] PMID: 25724847
Barochia AV, Kaler M, Cuento RA, Gordon EM, Weir NA, Sampson M, Fontana JR, MacDonald S, Moss J, Manganiello V, Remaley AT, Levine SJ
Am J Respir Crit Care Med 2015 May 1;191(9):990-1000. doi: 10.1164/rccm.201411-1990OC. PMID: 25692941Free PMC Article
Szefler SJ
J Allergy Clin Immunol 2015 Mar;135(3):644-52. Epub 2015 Jan 30 doi: 10.1016/j.jaci.2014.12.1921. [Epub ahead of print] PMID: 25649079
O'Neill S, Sweeney J, Patterson CC, Menzies-Gow A, Niven R, Mansur AH, Bucknall C, Chaudhuri R, Thomson NC, Brightling CE, O'Neill C, Heaney LG; British Thoracic Society Difficult Asthma Network
Thorax 2015 Apr;70(4):376-8. Epub 2014 Jun 10 doi: 10.1136/thoraxjnl-2013-204114. [Epub ahead of print] PMID: 24917087

Clinical prediction guides

Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D, Fletcher G, Mein CA, Hoti M, Walton R, Grigg J, Timms PM, Rajakulasingam RK, Bhowmik A, Rowe M, Venton TR, Choudhury AB, Simcock DE, Sadique Z, Monteiro WR, Corrigan CJ, Hawrylowicz CM, Griffiths CJ
Thorax 2015 May;70(5):451-7. Epub 2015 Feb 27 doi: 10.1136/thoraxjnl-2014-206449. [Epub ahead of print] PMID: 25724847
Barochia AV, Kaler M, Cuento RA, Gordon EM, Weir NA, Sampson M, Fontana JR, MacDonald S, Moss J, Manganiello V, Remaley AT, Levine SJ
Am J Respir Crit Care Med 2015 May 1;191(9):990-1000. doi: 10.1164/rccm.201411-1990OC. PMID: 25692941Free PMC Article
Honkoop PJ, Loijmans RJ, Termeer EH, Snoeck-Stroband JB, van den Hout WB, Bakker MJ, Assendelft WJ, ter Riet G, Sterk PJ, Schermer TR, Sont JK; Asthma Control Cost-Utility Randomized Trial Evaluation (ACCURATE) Study Group
J Allergy Clin Immunol 2015 Mar;135(3):682-8.e11. Epub 2014 Aug 28 doi: 10.1016/j.jaci.2014.07.016. [Epub ahead of print] PMID: 25174865
American Lung Association–Asthma Clinical Research Centers' Writing Committee, Dixon AE, Castro M, Cohen RI, Gerald LB, Holbrook JT, Irvin CG, Mohapatra S, Peters SP, Rayapudi S, Sugar EA, Wise RA
J Allergy Clin Immunol 2015 Mar;135(3):701-9.e5. Epub 2014 Aug 28 doi: 10.1016/j.jaci.2014.06.038. [Epub ahead of print] PMID: 25174863Free PMC Article
O'Neill S, Sweeney J, Patterson CC, Menzies-Gow A, Niven R, Mansur AH, Bucknall C, Chaudhuri R, Thomson NC, Brightling CE, O'Neill C, Heaney LG; British Thoracic Society Difficult Asthma Network
Thorax 2015 Apr;70(4):376-8. Epub 2014 Jun 10 doi: 10.1136/thoraxjnl-2013-204114. [Epub ahead of print] PMID: 24917087

Recent systematic reviews

Brigham EP, Kolahdooz F, Hansel N, Breysse PN, Davis M, Sharma S, Matsui EC, Diette G, McCormack MC
Ann Allergy Asthma Immunol 2015 Apr;114(4):273-80. Epub 2014 Dec 15 doi: 10.1016/j.anai.2014.11.003. [Epub ahead of print] PMID: 25524748
Huang L, Chen Q, Zhao Y, Wang W, Fang F, Bao Y
J Asthma 2015 Feb;52(1):16-25. Epub 2014 Aug 27 doi: 10.3109/02770903.2014.952435. [Epub ahead of print] PMID: 25162303
Sharpe RA, Bearman N, Thornton CR, Husk K, Osborne NJ
J Allergy Clin Immunol 2015 Jan;135(1):110-22. Epub 2014 Aug 23 doi: 10.1016/j.jaci.2014.07.002. [Epub ahead of print] PMID: 25159468
Huang Y, Zhang Y, Sun W, Germ K, Jiang Y, Guo W, Xu C, Li C
J Asthma 2014 Dec;51(10):1014-21. Epub 2014 Aug 26 doi: 10.3109/02770903.2014.941473. [Epub ahead of print] PMID: 24995662
Johansen T, Johansen P, Dahl R
J Asthma 2014 Nov;51(9):974-81. Epub 2014 Jul 18 doi: 10.3109/02770903.2014.936066. [Epub ahead of print] PMID: 24945942

Supplemental Content

Table of contents

    Consumer resources

    Medical Encyclopedia

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...