MCID: IMM036
MIFTS: 16

Immunodeficiency, Isolated malady

Genetic diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Immunodeficiency, Isolated

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Aliases & Descriptions for Immunodeficiency, Isolated:

Name: Immunodeficiency, Isolated 46 9 42
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 46 42 20 22 61
 
Immunodeficiency, Pure 42


Classifications:



External Ids:

OMIM46 300584

Summaries for Immunodeficiency, Isolated

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MalaCards based summary: Immunodeficiency, Isolated, is also known as immunodeficiency without anhidrotic ectodermal dysplasia, and has symptoms including x-linked recessive inheritance, iga deficiency and impaired memory b-cell generation. An important gene associated with Immunodeficiency, Isolated is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include b cells.

Description from OMIM:46 300584

Related Diseases for Immunodeficiency, Isolated

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Symptoms for Immunodeficiency, Isolated

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Clinical features from OMIM:

300584

HPO human phenotypes related to Immunodeficiency, Isolated:

(show all 6)
id Description Frequency HPO Source Accession
1 x-linked recessive inheritance HP:0001419
2 iga deficiency HP:0002720
3 impaired memory b-cell generation HP:0002847
4 increased igm level HP:0003496
5 igg deficiency HP:0004315
6 recurrent mycobacterium avium complex infections HP:0011275

Drugs & Therapeutics for Immunodeficiency, Isolated

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency, Isolated

Search NIH Clinical Center for Immunodeficiency, Isolated

Genetic Tests for Immunodeficiency, Isolated

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Genetic tests related to Immunodeficiency, Isolated:

id Genetic test Affiliating Genes
1 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia20 22 IKBKG

Anatomical Context for Immunodeficiency, Isolated

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MalaCards organs/tissues related to Immunodeficiency, Isolated:

31
B cells

Animal Models for Immunodeficiency, Isolated or affiliated genes

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Publications for Immunodeficiency, Isolated

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Variations for Immunodeficiency, Isolated

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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Isolated:

63
id Symbol AA change Variation ID SNP ID
1IKBKGp.Cys417TyrVAR_026496rs137853326

Clinvar genetic disease variations for Immunodeficiency, Isolated:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, IVS8, -1, G-Asingle nucleotide variantPathogenic
2IKBKGIKBKG, 1-BP INS, 110CinsertionPathogenic

Expression for genes affiliated with Immunodeficiency, Isolated

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Search GEO for disease gene expression data for Immunodeficiency, Isolated.

Pathways for genes affiliated with Immunodeficiency, Isolated

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Compounds for genes affiliated with Immunodeficiency, Isolated

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GO Terms for genes affiliated with Immunodeficiency, Isolated

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Sources for Immunodeficiency, Isolated

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet