MCID: IMM025
MIFTS: 15

Immunoglobulin a Deficiency 2

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunoglobulin a Deficiency 2

MalaCards integrated aliases for Immunoglobulin a Deficiency 2:

Name: Immunoglobulin a Deficiency 2 57 53 75 29 13 6 73
Igad2 57 53 75
Immunoglobulin a, Selective Deficiency of, Taci-Related 57
Immunoglobulin a, Selective Deficiency of, Taci Related 53
Iga, Selective Deficiency of, Taci-Related 57
Iga, Selective Deficiency of, Taci Related 53
Immunoglobulin a Deficiency, Type 2 40

Classifications:



External Ids:

OMIM 57 609529
MedGen 42 C1836032
SNOMED-CT via HPO 69 29260007 85828009 715852004
UMLS 73 C1836032

Summaries for Immunoglobulin a Deficiency 2

UniProtKB/Swiss-Prot : 75 Immunoglobulin A deficiency 2: 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. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology.

MalaCards based summary : Immunoglobulin a Deficiency 2, is also known as igad2. An important gene associated with Immunoglobulin a Deficiency 2 is TNFRSF13B (TNF Receptor Superfamily Member 13B). Related phenotypes are autoimmunity and iga deficiency

Description from OMIM: 609529

Related Diseases for Immunoglobulin a Deficiency 2

Symptoms & Phenotypes for Immunoglobulin a Deficiency 2

Clinical features from OMIM:

609529

Human phenotypes related to Immunoglobulin a Deficiency 2:

32
# Description HPO Frequency HPO Source Accession
1 autoimmunity 32 HP:0002960
2 iga deficiency 32 HP:0002720
3 recurrent infection of the gastrointestinal tract 32 HP:0004798
4 recurrent sinopulmonary infections 32 HP:0005425

Drugs & Therapeutics for Immunoglobulin a Deficiency 2

Search Clinical Trials , NIH Clinical Center for Immunoglobulin a Deficiency 2

Genetic Tests for Immunoglobulin a Deficiency 2

Genetic tests related to Immunoglobulin a Deficiency 2:

# Genetic test Affiliating Genes
1 Immunoglobulin a Deficiency 2 29 TNFRSF13B

Anatomical Context for Immunoglobulin a Deficiency 2

Publications for Immunoglobulin a Deficiency 2

Variations for Immunoglobulin a Deficiency 2

UniProtKB/Swiss-Prot genetic disease variations for Immunoglobulin a Deficiency 2:

75
# Symbol AA change Variation ID SNP ID
1 TNFRSF13B p.Cys104Arg VAR_024027 rs34557412

ClinVar genetic disease variations for Immunoglobulin a Deficiency 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
2 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
3 TNFRSF13B TNFRSF13B, 1-BP INS, 204A insertion Pathogenic
4 TNFRSF13B NM_012452.2(TNFRSF13B): c.492C> G (p.Tyr164Ter) single nucleotide variant Pathogenic rs72553882 GRCh38 Chromosome 17, 16940465: 16940465
5 TNFRSF13B NM_012452.2(TNFRSF13B): c.492C> G (p.Tyr164Ter) single nucleotide variant Pathogenic rs72553882 GRCh37 Chromosome 17, 16843779: 16843779

Expression for Immunoglobulin a Deficiency 2

Search GEO for disease gene expression data for Immunoglobulin a Deficiency 2.

Pathways for Immunoglobulin a Deficiency 2

GO Terms for Immunoglobulin a Deficiency 2

Sources for Immunoglobulin a Deficiency 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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