MCID: IMM154
MIFTS: 49

Immunoglobulin a Deficiency 1

Categories: Rare diseases, Immune 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 dominant
autosomal recessive
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 immunoglobulin alpha deficiency and alpha chain disease. An important gene associated with Immunoglobulin a Deficiency 1 is IGAD1 (Immunoglobulin A (IgA) Deficiency Susceptibility 1), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drug Immunoglobulin A has been mentioned in the context of this disorder. Affiliated tissues include small intestine, neutrophil and testes, and related phenotypes are malabsorption and recurrent respiratory infections

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.

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.

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 244)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin alpha deficiency 30.7 CD40LG CD79A
2 alpha chain disease 30.3 CD40LG CD79A
3 giardiasis 30.2 CD40LG CD79A
4 common variable immunodeficiency 27.3 BTK CD40LG CD79A IL10 IL4
5 immunoglobulin a deficiency 2 11.0
6 selective igg deficiency disease 10.6 CD40LG CD79A
7 c1q nephropathy 10.6 CD40LG CD79A
8 meningovascular neurosyphilis 10.6 CD40LG CD79A
9 brill-zinsser disease 10.6 CD40LG CD79A
10 exudative glomerulonephritis 10.6 CD40LG CD79A
11 cork-handlers' disease 10.6 CD40LG CD79A
12 salpingo-oophoritis 10.6 CD40LG CD79A
13 early yaws 10.6 CD40LG CD79A
14 ventilation pneumonitis 10.6 CD40LG CD79A
15 chronic interstitial cystitis 10.6 CD40LG CD79A
16 axillary adenitis 10.6 CD40LG CD79A
17 cryofibrinogenemia 10.6 CD40LG CD79A
18 trichostrongyloidiasis 10.6 CD40LG CD79A
19 subacute bacterial endocarditis 10.6 CD40LG CD79A
20 heterophyiasis 10.6 CD40LG CD79A
21 immunoglobulin g deficiency 10.6 CD40LG CD79A
22 orbital granuloma 10.6 CD40LG CD79A
23 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD79A
24 hyperglobulinemic purpura 10.6 CD40LG CD79A
25 gastroduodenitis 10.6 CD40LG CD79A
26 bacterial conjunctivitis 10.6 CD40LG CD79A
27 heavy chain disease 10.6 CD40LG CD79A
28 ophthalmia neonatorum 10.6 CD40LG CD79A
29 parotid disease 10.6 CD40LG CD79A
30 cerebral arteritis 10.6 CD40LG CD79A
31 selective immunoglobulin deficiency disease 10.6 CD40LG CD79A
32 geniculate herpes zoster 10.6 CD40LG CD79A
33 erythema elevatum diutinum 10.6 CD40LG CD79A
34 fallopian tube disease 10.6 CD40LG CD79A
35 hyperimmunoglobulin syndrome 10.6 CD40LG CD79A
36 congenital syphilis 10.6 CD40LG CD79A
37 polyclonal hypergammaglobulinemia 10.6 CD40LG CD79A
38 monoclonal paraproteinemia 10.6 CD40LG CD79A
39 salpingitis 10.6 CD40LG CD79A
40 ocular toxoplasmosis 10.6 CD40LG CD79A
41 dysgammaglobulinemia 10.6 CD40LG CD79A
42 acute maxillary sinusitis 10.6 CD40LG CD79A
43 chronic polyneuropathy 10.6 CD40LG CD79A
44 spinocerebellar ataxia, autosomal recessive 10 10.6 CD40LG CD79A
45 cd40 ligand deficiency 10.6 CD40LG CD79A
46 secondary syphilis 10.6 CD40LG CD79A
47 yellow nail syndrome 10.5 CD40LG CD79A
48 congenital toxoplasmosis 10.5 CD40LG CD79A
49 chorioretinitis 10.5 CD40LG CD79A
50 asymptomatic neurosyphilis 10.5 CD40LG CD79A

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 malabsorption 32 HP:0002024
2 recurrent respiratory infections 32 HP:0002205
3 recurrent infections 32 HP:0002719
4 iga deficiency 32 HP:0002720
5 autoimmunity 32 HP:0002960
6 recurrent infection of the gastrointestinal tract 32 HP:0004798

MGI Mouse Phenotypes related to Immunoglobulin a Deficiency 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 BTK CD40LG CD79A IL10 IL4 LTA
2 immune system MP:0005387 9.1 BTK CD40LG CD79A IL10 IL4 LTA

Drugs & Therapeutics for Immunoglobulin a Deficiency 1

Drugs for Immunoglobulin a Deficiency 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin A Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
2 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
3 Use of Low-level Laser Therapy on Children Aged One to Five Years With Energy-protein Malnutrition Enrolling by invitation NCT03355313 Not Applicable

Search 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, Neutrophil, Testes, T Cells

Publications for Immunoglobulin a Deficiency 1

Articles related to Immunoglobulin a Deficiency 1:

(show all 35)
# Title Authors Year
1
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients. ( 29978731 )
2018
2
Co-Occurrence of Chronic Spontaneous Urticaria with Immunoglobulin A Deficiency and Autoimmune Diseases. ( 27073906 )
2016
3
A case of selective immunoglobulin A deficiency with anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. ( 24119007 )
2013
4
Redo aortic valve replacement in a patient with immunoglobulin A deficiency and hemophilia A. ( 23816085 )
2013
5
Association of immunoglobulin A deficiency and elevated thyrotropin-receptor autoantibodies in two Nordic countries. ( 20977916 )
2011
6
Natural alteration of antibody titers in a patient with immunoglobulin A deficiency after chickenpox over a 10-year period. ( 22181566 )
2011
7
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
8
MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. ( 20542071 )
2010
9
Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency. ( 19735688 )
2009
10
Increased percentages of autoantibodies in immunoglobulin A-deficient children do not correlate with clinical manifestations. ( 19127458 )
2009
11
Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. ( 19392801 )
2009
12
Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency. ( 18486766 )
2008
13
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. ( 18780950 )
2008
14
Necrotizing vasculitis with a polyarteritis nodosa-like pattern and selective immunoglobulin A deficiency: case report and review of the literature. ( 18494827 )
2008
15
The clinical significance of immunoglobulin A deficiency. ( 17362578 )
2007
16
Duodenal appearance of giardiasis in a child with selective immunoglobulin A deficiency. ( 17532848 )
2007
17
Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. ( 18057683 )
2007
18
Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. ( 15996198 )
2005
19
Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. ( 12841399 )
2003
20
Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? ( 12414763 )
2002
21
HLA-A, B, Cw and DRB1, DRB3/4/5, DQB1, DPB1 frequencies in German immunoglobulin A-deficient individuals. ( 10931389 )
2000
22
High prevalence of selective immunoglobulin A deficiency in peritoneal dialysis patients. ( 11045302 )
2000
23
[Clinical relevance of immunoglobulin A deficiency in celiac disease]. ( 11141427 )
2000
24
Serum immunoglobulin A deficiency in relapsing inflammatory demyelinating polyneuropathy. ( 10204796 )
1999
25
Identifying immunoglobulin-A--deficient children and adults does not necessarily help the serologic diagnosis of coeliac disease. ( 9890474 )
1999
26
Abdominal T-cell non-Hodgkin's lymphoma of the gamma/delta type in a patient with selective immunoglobulin A deficiency. ( 9537480 )
1998
27
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 9606003 )
1998
28
High-resolution DNA typing in immunoglobulin A deficiency confirms a positive association with DRB1*0301, DQB1*02 haplotypes. ( 9389325 )
1997
29
Identification of selective immunoglobulin a deficiency by renal biopsy. ( 7645563 )
1995
30
Multireactive pattern of serum autoantibodies in asymptomatic individuals with immunoglobulin A deficiency. ( 7583926 )
1995
31
Case report: immunoglobulin A deficiency in patients with juvenile rheumatoid arthritis treated with aspirin. ( 8068484 )
1993
32
Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. ( 1351062 )
1992
33
Blood transfusion reaction in a patient with immunoglobulin A deficiency. ( 6401858 )
1983
34
Atypical intestinal alpha-chain disease evolving into selective immunoglobulin a deficiency in a Finnish boy. ( 6777236 )
1980
35
Intestinal lymphangiectasia with immunoglobulin A deficiency. ( 4177544 )
1968

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 BTK CD40LG CD79A IL10 IL4 LTA
2
Show member pathways
13.36 BTK CD40LG IL10 IL4 LTA
3
Show member pathways
13 BTK CD40LG IL10 IL4 LTA
4
Show member pathways
12.9 BTK CD40LG IL10 IL4 LTA
5
Show member pathways
12.57 BTK CD40LG CD79A LTA
6
Show member pathways
12.52 CD40LG IL10 IL4 LTA
7
Show member pathways
12.34 IL10 IL4 LTA
8
Show member pathways
12.31 BTK CD79A IL4
9
Show member pathways
12.14 CD40LG IL10 IL4
10
Show member pathways
11.94 CD40LG IL10 IL4
11 11.87 BTK CD40LG CD79A IL10 IL4
12
Show member pathways
11.81 BTK IL10 IL4
13 11.64 CD79A IL10 IL4
14 11.52 BTK CD40LG LTA
15 11.4 IL10 IL4 LTA
16 11.34 CD40LG IL10
17 11.28 IL10 IL4
18 11.27 CD40LG IL10
19 11.24 IL10 IL4
20 11.07 CD40LG IL4
21 11.01 CD40LG IL4
22 11 IL10 IL4
23 11 BTK CD40LG CD79A
24 10.75 IL10 IL4 LTA
25 10.72 CD40LG IL10 IL4 LTA

GO Terms for Immunoglobulin a Deficiency 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.73 CD40LG IL10 IL4 LTA
2 regulation of signaling receptor activity GO:0010469 9.71 CD40LG IL10 IL4 LTA
3 negative regulation of endothelial cell apoptotic process GO:2000352 9.49 IL10 IL4
4 negative regulation of B cell proliferation GO:0030889 9.48 BTK IL10
5 negative regulation of growth of symbiont in host GO:0044130 9.46 IL10 LTA
6 positive regulation of MHC class II biosynthetic process GO:0045348 9.37 IL10 IL4
7 B cell proliferation GO:0042100 9.33 CD40LG CD79A IL10
8 type 2 immune response GO:0042092 9.32 IL10 IL4
9 regulation of isotype switching GO:0045191 9.26 IL10 IL4
10 B cell activation GO:0042113 9.13 BTK CD79A IL4
11 B cell differentiation GO:0030183 8.92 CD40LG CD79A IL10 IL4

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 8.96 CD40LG LTA
2 cytokine activity GO:0005125 8.92 CD40LG IL10 IL4 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
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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