IGAD2
MCID: IMM025
MIFTS: 19

Immunoglobulin a Deficiency 2 (IGAD2)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunoglobulin a Deficiency 2

MalaCards integrated aliases for Immunoglobulin a Deficiency 2:

Name: Immunoglobulin a Deficiency 2 57 20 72 29 13 6 70
Igad2 57 20 72
Immunoglobulin a, Selective Deficiency of, Taci-Related 57
Immunoglobulin a, Selective Deficiency of, Taci Related 20
Iga, Selective Deficiency of, Taci-Related 57
Iga, Selective Deficiency of, Taci Related 20
Immunoglobulin a Deficiency, Type 2 39

Classifications:



External Ids:

OMIM® 57 609529
MedGen 41 C1836032
UMLS 70 C1836032

Summaries for Immunoglobulin a Deficiency 2

UniProtKB/Swiss-Prot : 72 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 recurrent sinopulmonary infections

More information from OMIM: 609529

Related Diseases for Immunoglobulin a Deficiency 2

Symptoms & Phenotypes for Immunoglobulin a Deficiency 2

Human phenotypes related to Immunoglobulin a Deficiency 2:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 autoimmunity 31 HP:0002960
2 recurrent sinopulmonary infections 31 HP:0005425
3 decreased circulating iga level 31 HP:0002720
4 recurrent infection of the gastrointestinal tract 31 HP:0004798
5 abnormal lymphocyte morphology 31 HP:0004332

Clinical features from OMIM®:

609529 (Updated 20-May-2021)

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

Articles related to Immunoglobulin a Deficiency 2:

(showing 7, show less)
# Title Authors PMID Year
1
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 57 6
16007087 2005
2
TACI is mutant in common variable immunodeficiency and IgA deficiency. 57 6
16007086 2005
3
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 6
19605846 2009
4
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. 6
18981294 2009
5
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 6
17492055 2007
6
Unraveling TACIt functions. 57
16049503 2005
7
Physiology of IgA and IgA deficiency. 57
11720003 2001

Variations for Immunoglobulin a Deficiency 2

ClinVar genetic disease variations for Immunoglobulin a Deficiency 2:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF13B NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) SNV Pathogenic 5303 rs72553883 GRCh37: 17:16843729-16843729
GRCh38: 17:16940415-16940415
2 TNFRSF13B TNFRSF13B, 1-BP INS, 204A Insertion Pathogenic 5305 GRCh37:
GRCh38:
3 TNFRSF13B NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) SNV Pathogenic 203368 rs72553882 GRCh37: 17:16843779-16843779
GRCh38: 17:16940465-16940465
4 TNFRSF13B NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) SNV Pathogenic 840923 GRCh37: 17:16855761-16855761
GRCh38: 17:16952447-16952447
5 TNFRSF13B NM_012452.3(TNFRSF13B):c.361C>T (p.Gln121Ter) SNV Pathogenic 1034403 GRCh37: 17:16852136-16852136
GRCh38: 17:16948822-16948822
6 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Pathogenic 5302 rs34557412 GRCh37: 17:16852187-16852187
GRCh38: 17:16948873-16948873
7 TNFRSF13B NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) SNV Uncertain significance 1031204 GRCh37: 17:16843050-16843050
GRCh38: 17:16939736-16939736
8 TNFRSF13B NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) SNV Uncertain significance 626190 rs374547688 GRCh37: 17:16855814-16855814
GRCh38: 17:16952500-16952500

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

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 TNFRSF13B p.Cys104Arg VAR_024027 rs34557412

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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