IMMUNOGLOBULIN A DEFICIENCY 2

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF, TACI-RELATED
IGAD2
IgA, SELECTIVE DEFICIENCY OF, TACI-RELATED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 609529
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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:0002720) IgA deficiency 33 / 7739
3
(HPO:0012140) Abnormality of cells of the lymphoid lineage 1 / 7739
4
(HPO:0005425) Recurrent sinopulmonary infections 10 / 7739
5
(HPO:0002960) Autoimmunity 78 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world (Cunningham-Rundles, 2001). The umbrella term 'common variable immunodeficiency' (CVID; see 607594) ...
Molecular genetics OMIM By studying cohorts of immunodeficient individuals from Europe (162 individuals with CVID) and the US (19 individuals with CVID and 16 with IGAD), Salzer et al. (2005) and Castigli et al. (2005) found that mutations in the TNFRSF13B ...