Immunoglobulin A Deficiency 1; Igad1

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 DeficiencyThe IGAD1 locus maps to chromosome 6p21. See also IGAD2 (OMIM ), which is caused by mutation in the TNFRSF13B gene (OMIM ) on chromosome 17p11.

Clinical Features

Phenotypes and symptoms related to Immunoglobulin A Deficiency 1; Igad1

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections
  • Autoimmunity
  • Malabsorption
  • Decreased antibody level in blood
  • IgA deficiency
  • Recurrent infection of the gastrointestinal tract

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Immunoglobulin A Deficiency 1; Igad1 Is also known as immunoglobulin a, selective deficiency of, iga, selective deficiency of, gamma-a-globulin, selective deficiency of.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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