IGAD1
MCID: IMM154
MIFTS: 49

Immunoglobulin a Deficiency 1 (IGAD1)

Categories: Gastrointestinal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunoglobulin a Deficiency 1

MalaCards integrated aliases for Immunoglobulin a Deficiency 1:

Name: Immunoglobulin a Deficiency 1 57 53 73
Immunoglobulin a Deficiency 57 12 13 73
Immunoglobulin a, Selective Deficiency of 57 53
Gamma-a-Globulin, Selective Deficiency of 57 53
Selective Immunoglobulin a Deficiency 12 73
Selective Iga Deficiency Disease 12 15
Iga, Selective Deficiency of 57 53
Igad1 57 53
Selective Iga Immunodeficiency 12
Selective Iga Deficiency 53
Iga Deficiency Selective 55

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant
isolated cases

Miscellaneous:
most individuals are asymptomatic


HPO:

32

Classifications:



External Ids:

OMIM 57 137100
Disease Ontology 12 DOID:11701
MeSH 44 D017098
SNOMED-CT 68 29260007
MedGen 42 C2931161
ICD10 33 D80.2

Summaries for Immunoglobulin a Deficiency 1

OMIM : 57 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). (137100)

MalaCards based summary : Immunoglobulin a Deficiency 1, also known as immunoglobulin a deficiency, is related to b cell deficiency and immunoglobulin alpha deficiency. An important gene associated with Immunoglobulin a Deficiency 1 is IGAD1 (Immunoglobulin A (IgA) Deficiency Susceptibility 1), and among its related pathways/superpathways are PAK Pathway and Immune response NFAT in immune response. Affiliated tissues include small intestine, lung and liver, and related phenotypes are recurrent respiratory infections and malabsorption

Disease Ontology : 12 A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.

NIH Rare Diseases : 53 Selective IgA deficiency is the most common type of primary immunodeficiency syndrome. Individuals with this condition have a complete absence or severe deficiency of IgA, which is essential in the respiratory and gastrointestinal tracts and plays a role in developing mucosal immunity and protection against infection. While many people with selective IgA deficiency appear healthy, they are more prone to infections, allergies, diarrhea, and autoimmune diseases. The underlying cause of selective IgA deficiency is unknown. Familial occurrence has been reported, with some cases suggestive of autosomal dominant inheritance and others of autosomal recessive inheritance. At this time, there is no way to replace IgA in the body. Antibiotics may be used to treat infections or prevent new infections from occurring.

Wikipedia : 76 Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of... more...

Related Diseases for Immunoglobulin a Deficiency 1

Diseases related to Immunoglobulin a Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 b cell deficiency 31.5 TNFRSF13B CD40LG BTK
2 immunoglobulin alpha deficiency 30.1 TNFRSF13B CD79A CD40LG
3 common variable immunodeficiency 29.9 TNFRSF13B CD79A CD40LG BTK
4 iga glomerulonephritis 29.7 CD79A CD40LG
5 agammaglobulinemia 29.5 CD79A BTK
6 marginal zone b-cell lymphoma 29.5 CD79A CD40LG
7 systemic lupus erythematosus 29.4 TNFRSF13B LTA CD79A CD40LG
8 autoimmune disease 28.9 TNFRSF13B LTA CD79A CD40LG
9 immunoglobulin a deficiency 2 11.1
10 perrault syndrome 1 11.1
11 c1q nephropathy 10.1 CD79A CD40LG
12 immunoglobulin g deficiency 10.1 CD79A CD40LG
13 cryofibrinogenemia 10.1 CD79A CD40LG
14 heparin-induced thrombocytopenia 10.1 CD79A CD40LG
15 congenital syphilis 10.1 CD79A CD40LG
16 syphilis 10.1 CD79A CD40LG
17 sporotrichosis 10.1 CD79A CD40LG
18 secondary syphilis 10.1 CD79A CD40LG
19 ocular toxoplasmosis 10.1 CD79A CD40LG
20 toxoplasmosis 10.1 CD79A CD40LG
21 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.1 CD79A CD40LG
22 persistent generalized lymphadenopathy 10.1 CD79A CD40LG
23 congenital toxoplasmosis 10.1 CD79A CD40LG
24 cryptosporidiosis 10.1 CD79A CD40LG
25 pustulosis palmaris et plantaris 10.1 CD79A CD40LG
26 dysgerminoma of ovary 10.1 CD79A CD40LG
27 congenital hypogammaglobulinemia 10.1 CD79A BTK
28 meningoencephalitis 10.1 CD79A CD40LG
29 agammaglobulinemia, non-bruton type 10.1 CD79A BTK
30 spondyloarthropathy 1 10.1
31 spondylitis 10.1
32 lupus erythematosus 10.1
33 cryoglobulinemia 10.1 CD79A CD40LG
34 pleuropulmonary blastoma 10.0
35 chronic granulomatous disease 10.0
36 parotitis 10.0
37 purpura 10.0
38 tonsillitis 10.0 LTA CD79A
39 celiac disease 1 10.0
40 immunodeficiency with hyper-igm, type 1 10.0 CD79A CD40LG BTK
41 agammaglobulinemia, x-linked 10.0 CD79A CD40LG BTK
42 tetanus 9.9 LTA CD79A CD40LG
43 waldenstrom macroglobulinemia 9.9 CD40LG BTK
44 asthma 9.9
45 thrombocytopenia 9.9
46 steatorrhea 9.9
47 hypothyroidism 9.9
48 immune system disease 9.9 CD40LG BTK
49 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8 CD40LG BTK
50 diabetes mellitus 9.8

Graphical network of the top 20 diseases related to Immunoglobulin a Deficiency 1:



Diseases related to Immunoglobulin a Deficiency 1

Symptoms & Phenotypes for Immunoglobulin a Deficiency 1

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory infections, recurrent

Immunology:
allergic disorders
autoimmune disorders

Abdomen Gastrointestinal:
gastrointestinal infections, recurrent

Laboratory Abnormalities:
decreased serum iga


Clinical features from OMIM:

137100

Human phenotypes related to Immunoglobulin a Deficiency 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 malabsorption 32 HP:0002024
3 autoimmunity 32 HP:0002960
4 recurrent infections 32 HP:0002719
5 iga deficiency 32 HP:0002720
6 recurrent infection of the gastrointestinal tract 32 HP:0004798

Drugs & Therapeutics for Immunoglobulin a Deficiency 1

Search Clinical Trials , NIH Clinical Center for Immunoglobulin a Deficiency 1

Genetic Tests for Immunoglobulin a Deficiency 1

Anatomical Context for Immunoglobulin a Deficiency 1

MalaCards organs/tissues related to Immunoglobulin a Deficiency 1:

41
Small Intestine, Lung, Liver, Thyroid, T Cells, Skin, B Cells

Publications for Immunoglobulin a Deficiency 1

Articles related to Immunoglobulin a Deficiency 1:

(show top 50) (show all 103)
# Title Authors Year
1
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients. ( 29978731 )
2018
2
Hyperthyroidism with Selective Immunoglobulin A Deficiency. ( 30101931 )
2018
3
Prevalence of dermatologic diseases among patients with selective immunoglobulin A deficiency. ( 28052804 )
2017
4
Co-Occurrence of Chronic Spontaneous Urticaria with Immunoglobulin A Deficiency and Autoimmune Diseases. ( 27073906 )
2016
5
Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report. ( 28329776 )
2016
6
Role of apoptosis in common variable immunodeficiency and selective immunoglobulin A deficiency. ( 26795881 )
2016
7
Helicobacter pylori infection in patients with selective immunoglobulin a deficiency. ( 26749258 )
2016
8
Immunoglobulin A deficiency in celiac disease in the United States. ( 26412412 )
2016
9
Prevalence of selective immunoglobulin A deficiency in Greek children and adolescents with type 1 diabetes. ( 27286692 )
2016
10
Immunoglobulin A deficiency following treatment with lamotrigine. ( 27396372 )
2016
11
Reversal of Immunoglobulin A Deficiency in Children. ( 25370723 )
2015
12
Clinical comparison between patients with selective immunoglobulin A deficiency and other primary immunodeficiencies. ( 25727826 )
2015
13
Selective immunoglobulin a deficiency in type 1 diabetes mellitus: a prevalence study in Western sicily (Italy). ( 25922807 )
2015
14
Clinical phenotype classification for selective immunoglobulin A deficiency. ( 26306496 )
2015
15
Hirayama disease and immunoglobulin A deficiency: a coincidence or a syndrome. ( 25016569 )
2014
16
A case of selective immunoglobulin A deficiency with anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. ( 24119007 )
2013
17
Redo aortic valve replacement in a patient with immunoglobulin A deficiency and hemophilia A. ( 23816085 )
2013
18
Primary cutaneous marginal zone lymphoma with sequential development of nodal marginal zone lymphoma in a patient with selective immunoglobulin A deficiency. ( 24274426 )
2013
19
The effect of bovine colostrum on viral upper respiratory tract infections in children with immunoglobulin A deficiency. ( 21801330 )
2013
20
Cryptococcal pneumonia in a patient with presumptive sarcoidosis and selective immunoglobulin A deficiency. ( 22168958 )
2012
21
Evaluation of particle gel immunoassays for the detection of severe immunoglobulin A deficiency and anti-human immunoglobulin A antibodies. ( 22229448 )
2012
22
Immunoglobulin A deficiency in celiac disease. ( 22476042 )
2012
23
Immunoglobulin A deficiency on serological coeliac screening: an opportunity for early diagnosis of hypogammaglobulinaemia. ( 22859725 )
2012
24
Association of immunoglobulin A deficiency and elevated thyrotropin-receptor autoantibodies in two Nordic countries. ( 20977916 )
2011
25
Natural alteration of antibody titers in a patient with immunoglobulin A deficiency after chickenpox over a 10-year period. ( 22181566 )
2011
26
Bronchial secretory immunoglobulin a deficiency correlates with airway inflammation and progression of chronic obstructive pulmonary disease. ( 21512171 )
2011
27
Selective immunoglobulin A deficiency and celiac disease: let's give serology a chance. ( 21548455 )
2011
28
Prevalence of immunoglobulin A deficiency in Chinese blood donors and evaluation of anaphylactic transfusion reaction risk. ( 21658139 )
2011
29
Prevalence of selective immunoglobulin A deficiency in healthy Turkish school children. ( 21980837 )
2011
30
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
31
MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. ( 20542071 )
2010
32
Chronic meningococcaemia and immunoglobulin A deficiency. ( 20651040 )
2010
33
Immunoglobulin A deficiency and oral health status: a case-control study. ( 19968742 )
2010
34
Screening of Canadian Blood Services donors for severe immunoglobulin A deficiency. ( 20158683 )
2010
35
Case report: massive blood transfusion in a patient with immunoglobulin a deficiency undergoing cesarean delivery. ( 20357151 )
2010
36
Immunoglobulin A deficiency and Kawasaki disease. ( 20500486 )
2010
37
Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency. ( 19735688 )
2009
38
Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. ( 19392801 )
2009
39
An unusual cause of diarrhea: diffuse intestinal nodular lymphoid hyperplasia in association with selective immunoglobulin A deficiency (with video). ( 19559841 )
2009
40
Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency. ( 18486766 )
2008
41
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. ( 18780950 )
2008
42
Necrotizing vasculitis with a polyarteritis nodosa-like pattern and selective immunoglobulin A deficiency: case report and review of the literature. ( 18494827 )
2008
43
Prevalence of autism spectrum disorders in relatives of patients with selective immunoglobulin A deficiency. ( 18782963 )
2008
44
Recurrent blocked duct(s) in a mother with immunoglobulin A deficiency. ( 19086829 )
2008
45
Induction of α1 and α2 gene expression in selective immunoglobulin A deficiency. ( 21479423 )
2008
46
The clinical significance of immunoglobulin A deficiency. ( 17362578 )
2007
47
Duodenal appearance of giardiasis in a child with selective immunoglobulin A deficiency. ( 17532848 )
2007
48
Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. ( 18057683 )
2007
49
Further aspects of human immunoglobulin A deficiency. ( 17761041 )
2007
50
Diffuse nodular lymphoid hyperplasia of the gastrointestinal tract in patient with selective immunoglobulin A deficiency and sarcoid-like syndrome--case report. ( 18217437 )
2007

Variations for Immunoglobulin a Deficiency 1

Expression for Immunoglobulin a Deficiency 1

Search GEO for disease gene expression data for Immunoglobulin a Deficiency 1.

Pathways for Immunoglobulin a Deficiency 1

Pathways related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 BTK CD40LG LTA TNFRSF13B
2
Show member pathways
12.21 BTK CD40LG CD79A
3
Show member pathways
12.11 BTK CD40LG CD79A LTA TNFRSF13B
4 12.09 BTK CD40LG CD79A
5
Show member pathways
12.09 BTK CD40LG LTA TNFRSF13B
6
Show member pathways
11.36 CD40LG TNFRSF13B
7 11.31 BTK CD40LG LTA
8 11.26 CD40LG LTA
9 11.16 CD40LG TNFRSF13B
10 10.85 LTA TNFRSF13B
11 10.73 BTK CD40LG LTA
12 10.49 BTK CD40LG CD79A TNFRSF13B

GO Terms for Immunoglobulin a Deficiency 1

Biological processes related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.5 BTK CD79A TNFRSF13B
2 B cell differentiation GO:0030183 9.37 CD40LG CD79A
3 B cell proliferation GO:0042100 9.26 CD40LG CD79A
4 B cell activation GO:0042113 9.16 BTK CD79A
5 negative regulation of B cell proliferation GO:0030889 8.96 BTK TNFRSF13B
6 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 CD40LG LTA TNFRSF13B

Molecular functions related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.62 CD40LG LTA

Sources for Immunoglobulin a Deficiency 1

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
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49 NCI
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51 NDF-RT
54 NINDS
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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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