MCID: SLC007
MIFTS: 23

Selective Immunoglobulin Deficiency Disease

Categories: Immune diseases

Aliases & Classifications for Selective Immunoglobulin Deficiency Disease

MalaCards integrated aliases for Selective Immunoglobulin Deficiency Disease:

Name: Selective Immunoglobulin Deficiency Disease 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:6025
NCIt 49 C27870
UMLS 71 C0543684 C1335942

Summaries for Selective Immunoglobulin Deficiency Disease

Disease Ontology : 12 A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.

MalaCards based summary : Selective Immunoglobulin Deficiency Disease is related to immunoglobulin a deficiency 1 and dysgammaglobulinemia. An important gene associated with Selective Immunoglobulin Deficiency Disease is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune system

Related Diseases for Selective Immunoglobulin Deficiency Disease

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

(showing 139, show less)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 31.4 TNFRSF13B TGM2 RNU4ATAC CLEC16A CD40LG
2 dysgammaglobulinemia 27.4 XIAP TNFRSF13B TGM2 SLAMF7 SLAMF6 SLAMF1
3 selective igm deficiency disease 11.3
4 selective igd deficiency disease 11.3
5 autoimmune peripheral neuropathy 10.5 ICOSLG CD40LG
6 autoimmune neuropathy 10.4 ICOSLG CD40LG
7 coronin-1a deficiency 10.4 SH2D1A MAGT1
8 cork-handlers' disease 10.4 CD8A CD40LG
9 selective igg deficiency disease 10.4 TNFRSF13B CD40LG
10 immunodeficiency with hyper-igm, type 5 10.4 TNFRSF13B CD40LG
11 early yaws 10.4 CD8A CD40LG
12 norwegian scabies 10.4 CD8A CD40LG
13 agammaglobulinemia, x-linked 10.4 SH2D1A ICOSLG CD40LG
14 viral exanthem 10.4 CD8A CD40LG
15 tertiary syphilis 10.4 CD8A CD40LG
16 acute retinal necrosis syndrome 10.4 CD8A CD40LG
17 oral hairy leukoplakia 10.4 SH2D1A CD8A
18 cerebritis 10.3 CD8A CD40LG
19 granulomatous hepatitis 10.3 CD8A CD40LG
20 trichohepatoenteric syndrome 2 10.3 ICOSLG CLEC16A
21 west nile encephalitis 10.3 CD8A CD40LG
22 secondary syphilis 10.3 CD8A CD40LG
23 parotid disease 10.3 CD8A CD40LG
24 west nile fever 10.3 CD8A CD40LG
25 immunodeficiency with hyper-igm, type 2 10.3 TNFRSF13B ICOSLG CD40LG
26 dacryoadenitis 10.3 ICOSLG CD8A
27 transient hypogammaglobulinemia 10.3 TNFRSF13B RNU4ATAC CD40LG
28 adenoid hypertrophy 10.3 CD8A CD40LG
29 xerophthalmia 10.3 CD8A CD40LG
30 miliary tuberculosis 10.3 CD8A CD40LG
31 mikulicz disease 10.3 SLAMF7 CD40LG
32 monkeypox 10.3 CD8A CD40LG
33 iritis 10.3 CD8A CD40LG
34 immunodeficiency with hyper-igm, type 3 10.3 ICOSLG CD8A CD40LG
35 cryptogenic organizing pneumonia 10.3 CD8A CD40LG
36 autoimmune disease of urogenital tract 10.3 ICOSLG CD8A CD40LG
37 primary thrombocytopenia 10.3 ICOSLG CD8A CD40LG
38 lichen disease 10.3 ICOSLG CD8A CD40LG
39 autoimmune disease of peripheral nervous system 10.3 ICOSLG CD8A CD40LG
40 t cell deficiency 10.3 ICOSLG CD8A CD40LG
41 autoimmune disease of blood 10.2 ICOSLG CD8A CD40LG
42 panuveitis 10.2 ICOSLG CD8A CD40LG
43 herpangina 10.2 ICOSLG CD8A CD40LG
44 autoimmune disease of exocrine system 10.2 ICOSLG CD8A CD40LG
45 coccidiosis 10.2 ICOSLG CD8A CD40LG
46 conjunctival disease 10.2 ICOSLG CD8A CD40LG
47 progressive multifocal leukoencephalopathy 10.2 ICOSLG CD8A CD40LG
48 thymus gland disease 10.2 ICOSLG CD8A CD40LG
49 paranasal sinus disease 10.2 ICOSLG CD8A CD40LG
50 rectal disease 10.2 ICOSLG CD8A CD40LG
51 thymus cancer 10.2 ICOSLG CD8A CD40LG
52 opportunistic mycosis 10.2 ICOSLG CD8A CD40LG
53 autoimmune disease of endocrine system 10.2 ICOSLG CD8A CD40LG
54 spinal cord disease 10.2 ICOSLG CD8A CD40LG
55 fungal infectious disease 10.2 ICOSLG CD8A CD40LG
56 exanthem 10.2 ICOSLG CD8A CD40LG
57 lymph node disease 10.2 ICOSLG CD8A CD40LG
58 hypersensitivity reaction type iv disease 10.2 ICOSLG CD8A CD40LG
59 nose disease 10.2 ICOSLG CD8A CD40LG
60 herpes zoster 10.2 ICOSLG CD8A CD40LG
61 salivary gland disease 10.2 ICOSLG CD8A CD40LG
62 parasitic helminthiasis infectious disease 10.2 ICOSLG CD8A CD40LG
63 commensal bacterial infectious disease 10.2 ICOSLG CD8A CD40LG
64 chorioretinitis 10.2 CD8A CD40LG
65 dengue disease 10.2 ICOSLG CD8A CD40LG
66 extrinsic cardiomyopathy 10.2 ICOSLG CD8A CD40LG
67 uveal disease 10.2 ICOSLG CD8A CD40LG
68 bacterial pneumonia 10.2 ICOSLG CD8A CD40LG
69 blood coagulation disease 10.2 ICOSLG CD8A CD40LG
70 hantavirus pulmonary syndrome 10.2 CD8A CD40LG
71 smoldering myeloma 10.2 SLAMF7 CD40LG
72 mature b-cell neoplasm 10.2 ICOSLG CD8A CD40LG
73 parasitic protozoa infectious disease 10.2 ICOSLG CD8A CD40LG
74 blood platelet disease 10.2 ICOSLG CD8A CD40LG
75 autoimmune disease of musculoskeletal system 10.2 ICOSLG CD8A CD40LG
76 bronchial disease 10.2 ICOSLG CD8A CD40LG
77 primary bacterial infectious disease 10.2 ICOSLG CD8A CD40LG
78 cholangitis, primary sclerosing 10.2 ICOSLG CD8A CD40LG
79 good syndrome 10.2 TNFRSF13B CD8A CD40LG
80 leukocyte disease 10.2 ICOSLG CD8A CD40LG
81 monoclonal gammopathy of uncertain significance 10.2 SLAMF7 ICOSLG CD40LG
82 taeniasis 10.2 CD8A CD40LG
83 immunodeficiency with hyper-igm, type 1 10.2 TNFRSF13B SH2D1A ICOSLG CD40LG
84 autoimmune disease of central nervous system 10.2 ICOSLG CD8A CD40LG
85 bone marrow cancer 10.2 ICOSLG CD8A CD40LG
86 transient hypogammaglobulinemia of infancy 10.2 TNFRSF13B SH2D1A RNU4ATAC CD40LG
87 bone inflammation disease 10.1 ICOSLG CD8A CD40LG
88 ebola hemorrhagic fever 10.1 CD8A CD40LG
89 x-linked recessive disease 10.1 SH2D1A ICOSLG CD8A CD40LG
90 x-linked monogenic disease 10.1 SH2D1A ICOSLG CD8A CD40LG
91 integumentary system disease 10.1 ICOSLG CD8A CD40LG
92 optic nerve disease 10.1 ICOSLG CD8A CD40LG
93 hair disease 10.1 RNU4ATAC ICOSLG CD8A CD40LG
94 sarcoidosis 1 10.1 ICOSLG CD8A CD40LG
95 orchitis 10.1 CD8A CD40LG
96 lymphocytic gastritis 10.1 TGM2 CD8A
97 bullous skin disease 10.1 TGM2 ICOSLG CD40LG
98 thrombocytopenia due to platelet alloimmunization 10.0 TNFRSF13B ICOSLG CD8A CD40LG
99 anemia, autoimmune hemolytic 10.0 TNFRSF13B ICOSLG CD8A CD40LG
100 upper respiratory tract disease 10.0 ICOSLG CD8A CD40LG
101 peripheral nervous system disease 10.0 RNU4ATAC ICOSLG CD8A CD40LG
102 potocki-shaffer syndrome 10.0 TNFRSF13B ICOSLG CD8A CD40LG
103 systemic scleroderma 10.0 ICOSLG CD8A CD40LG
104 bell's palsy 10.0 CD8A CD40LG
105 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.0 SLAMF6 SH2D1A MAGT1 CD8A
106 lymphocytic colitis 10.0 TGM2 CD8A
107 spinal disease 10.0 RNU4ATAC ICOSLG CD8A
108 duodenitis 10.0 TGM2 CD8A CD40LG
109 giardiasis 9.9 TGM2 CD8A CD40LG
110 fungal meningitis 9.9 CD8A CD40LG
111 pfeiffer syndrome 9.9 SLAMF6 SLAMF1 SH2D1A CD8A CD40LG
112 cd40 ligand deficiency 9.9 TNFRSF13B SH2D1A ICOSLG CD8A CD40LG
113 omenn syndrome 9.9 SH2D1A MAGT1 ICOSLG CD8A CD40LG
114 combined t cell and b cell immunodeficiency 9.9 SH2D1A MAGT1 ICOSLG CD8A CD40LG
115 autoimmune lymphoproliferative syndrome 9.9 SH2D1A MAGT1 ICOSLG CD8A CD40LG
116 griscelli syndrome 9.9 STXBP2 SLAMF6 SH2D1A
117 autoimmune disease of skin and connective tissue 9.8 TGM2 ICOSLG CD8A CD40LG
118 autoimmune disease of gastrointestinal tract 9.8 TGM2 ICOSLG CD8A CD40LG
119 cellulitis 9.8 TGM2 ICOSLG CD8A CD40LG
120 hantavirus hemorrhagic fever with renal syndrome 9.8 CD8A CD40LG
121 lymphoproliferative syndrome 1 9.7 XIAP STXBP2 SH2D1A
122 chediak-higashi syndrome 9.7 STXBP2 SH2D1A ICOSLG CD8A
123 hemophagocytic lymphohistiocytosis 9.7 XIAP STXBP2 SH2D1A
124 immune deficiency disease 9.6 XIAP TNFRSF13B SLAMF1 SH2D1A ICOSLG CD40LG
125 lymphoproliferative syndrome, x-linked, 2 9.6 XIAP STXBP2 SLAMF1 SH2D1A
126 celiac disease 1 9.5 TGM2 ICOSLG CLEC16A CD8A CD40LG
127 diabetes mellitus, type i 9.5 TGM2 ICOSLG CD8A CD40LG
128 common variable immunodeficiency 9.5 XIAP TNFRSF13B SH2D1A ICOSLG CLEC16A CD40LG
129 lymphoma, non-hodgkin, familial 9.5 XIAP TNFRSF13B SH2D1A ICOSLG CD8A CD40LG
130 leukemia, chronic lymphocytic 9.4 XIAP TNFRSF13B ICOSLG CD8A CD84 CD40LG
131 immunoglobulin alpha deficiency 9.3 TNFRSF13B TGM2 ICOSLG CLEC16A CD8A CD40LG
132 acute hemorrhagic encephalitis 9.3 XIAP STXBP2 SH2D1A CD8A CD40LG
133 pancytopenia 9.3 XIAP STXBP2 SH2D1A CD8A CD40LG
134 b cell deficiency 9.2 TNFRSF13B TGM2 SH2D1A RNU4ATAC ICOSLG CD8A
135 myeloma, multiple 9.1 XIAP TNFRSF13B SLAMF7 SLAMF1 ICOSLG CD8A
136 lymphoproliferative syndrome 9.1 XIAP SLAMF6 SLAMF1 SH2D1A LY9 ICOSLG
137 lymphoproliferative syndrome 2 9.0 XIAP STXBP2 SLAMF1 SH2D1A MAGT1 CD8A
138 systemic lupus erythematosus 8.8 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 LY9 ICOSLG
139 lymphoproliferative syndrome, x-linked, 1 7.8 XIAP STXBP2 SLAMF7 SLAMF6 SLAMF1 SH2D1A

Graphical network of the top 20 diseases related to Selective Immunoglobulin Deficiency Disease:



Diseases related to Selective Immunoglobulin Deficiency Disease

Symptoms & Phenotypes for Selective Immunoglobulin Deficiency Disease

MGI Mouse Phenotypes related to Selective Immunoglobulin Deficiency Disease:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.83 CD244 CD40LG CD84 CD8A LY9 MAGT1
2 immune system MP:0005387 9.5 CD244 CD40LG CD84 CD8A LY9 MAGT1

Drugs & Therapeutics for Selective Immunoglobulin Deficiency Disease

Search Clinical Trials , NIH Clinical Center for Selective Immunoglobulin Deficiency Disease

Genetic Tests for Selective Immunoglobulin Deficiency Disease

Anatomical Context for Selective Immunoglobulin Deficiency Disease

MalaCards organs/tissues related to Selective Immunoglobulin Deficiency Disease:

40
B Cells

Publications for Selective Immunoglobulin Deficiency Disease

Variations for Selective Immunoglobulin Deficiency Disease

Expression for Selective Immunoglobulin Deficiency Disease

Search GEO for disease gene expression data for Selective Immunoglobulin Deficiency Disease.

Pathways for Selective Immunoglobulin Deficiency Disease

GO Terms for Selective Immunoglobulin Deficiency Disease

Cellular components related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.77 TNFRSF13B STXBP2 SLAMF7 SLAMF6 SLAMF1 MAGT1
2 plasma membrane GO:0005886 9.44 TNFRSF13B TGM2 STXBP2 SLAMF7 SLAMF6 SLAMF1

Biological processes related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.86 SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A LY9
2 regulation of immune response GO:0050776 9.7 SLAMF7 SLAMF6 SH2D1B SH2D1A ICOSLG CD8A
3 immune system process GO:0002376 9.7 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
4 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.4 SLAMF6 SH2D1A
5 positive regulation of interleukin-17 production GO:0032740 9.37 SLAMF6 LY9
6 adaptive immune response GO:0002250 9.36 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
7 T-helper 17 cell lineage commitment GO:0072540 9.32 SLAMF6 LY9

Molecular functions related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 MHC class I protein binding GO:0042288 8.62 CD8A CD244

Sources for Selective Immunoglobulin Deficiency Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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