Immunoglobulin a deficiency 1

Preferred Label : Immunoglobulin a deficiency 1;

Symbol : IGAD1;

CISMeF acronym : IGAD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Iga, selective deficiency of; Immunoglobulin a, selective deficiency of; Gamma-a-globulin, selective deficiency of;

Description : Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). - Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.;

Inheritance : Autosomal dominant; Autosomal recessive; Isolated cases;

Laboratory abnormalities : Decreased serum IgA;

Prefixed ID : %137100;

Details

Origin ID

137100;

UMLS CUI

C2931161;

Automatic exact mappings (from CISMeF team)
- Selective deficiency of immunoglobulin A [ICD-11 More detail]
- immunoglobulin A (IgA) deficiency susceptibility 1 [HGNC gene]
- selective IgA deficiency disease [DO Concept]
Broader ORDO disease(s)
- Immunoglobulin A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Immunoglobulin A Deficiency 1 [NCIt concept]
- Immunoglobulin a deficiency 1 [MeSH concept]
- Secretory IgA deficiency [HPO term]
- Selective IgA Immunodeficiency [NCIt concept]
- Selective IgA immunodeficiency [MedDRA Preferred Term]
- Selective deficiency of immunoglobulin A [IgA] [ICD-10 Sub-category]
- Selective deficiency of immunoglobulin A [IgA] [ICD-10 Sub-category (who)]
- Selective immunoglobulin A deficiency (disorder) [SNOMED CT concept]
- immunoglobulin a deficiency 1 [MeSH Supplementary Concept]
- selective immunoglobulin A deficiency [Disease (Nov.)]
DO Cross reference
- immunoglobulin alpha deficiency [DO Concept]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Heterogeneous [HPO term]
- Malabsorption [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Immunoglobulin A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunoglobulin A Deficiency 1 [NCIt concept]
- Immunoglobulin a deficiency 1 [MeSH concept]
- Selective deficiency of immunoglobulin A [IgA] [ICD-10 Sub-category (who)]
- immunoglobulin a deficiency 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- IgA deficiency [MeSH concept]
- IgA deficiency [MedDRA LLT]
- Immunoglobulin A deficiency [ORDO Disease]
- Immunoglobulin A deficiency (disorder) [SNOMED CT concept]
- iga deficiency [MeSH Descriptor]
- immunoglobulin A deficiency [Disease (Nov.)]
- immunoglobulin a deficiency [SNOMED Notion]

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