IMMUNOGLOBULIN A DEFICIENCY 1

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF
GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF
IGAD1
IgA, SELECTIVE DEFICIENCY OF
Number of Symptoms 10
OrphanetNr:
OMIM Id: 137100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004798) Recurrent infection of the gastrointestinal tract 9 / 7739
2
(HPO:0002024) Malabsorption 142 / 7739
3
(HPO:0002720) IgA deficiency 33 / 7739
4
(HPO:0002205) Recurrent respiratory infections 254 / 7739
5
(HPO:0002960) Autoimmunity 78 / 7739
6
(OMIM) Allergic disorders 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Decreased serum IgA 2 / 7739
9
(HPO:0001425) Heterogeneous 132 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Oxelius et al. (1981) concluded that deficiency of IgG2 in combination with IgA deficiency is a critical factor in whether or not IgA-deficient persons have illness, such as frequent infections, autoimmune disorders, atopy, or malabsorption.

Schaffer ...

Molecular genetics OMIM Sekine et al. (2007) identified 5 nonsynonymous polymorphisms and numerous SNPs in noncoding regions of the MSH5 gene (603382) on chromosome 6p22.1-p21.3 in Swedish patients with IgA deficiency or common variable immunodeficiency (CVID). Two nonsynonymous SNPs leading to ...
Population genetics OMIM Oen et al. (1982) found IgA deficiency, defined as less than 0.01 mg/ml, in 155 of 72,296 blood donors.

With a prevalence of about 1 in 800 Caucasians, selective IgA deficiency is the most frequently recognized ...