Details of Disease

General Information of Disease (ID: DISNT79U)

Disease Name T-B+ severe combined immunodeficiency due to JAK3 deficiency
Synonyms
severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency; severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE; SCID, T cell-negative, B cell-positive, NK cell-negative; T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency; SCID, autosomal recessive, T-negative/B-positive type; T-B+ SCID due to JAK3 deficiency
Definition Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Disease Hierarchy
DIS8RTG7: Familial severe combined immunodeficiency
DISFRKM4: T-B+ severe combined immunodeficiency
DISNT79U: T-B+ severe combined immunodeficiency due to JAK3 deficiency
Disease Identifiers
MONDO ID
MONDO_0010938
MESH ID
C563440
UMLS CUI
C1833275
OMIM ID
600802
MedGen ID
331474
Orphanet ID
35078

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
JAK3 TTT7PJU Strong Genetic Variation [1]
JAK3 TTT7PJU Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JAK3 OTQ8QW2L Definitive Autosomal recessive [2]
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References

1 Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.Blood. 2004 Mar 15;103(6):2009-18. doi: 10.1182/blood-2003-06-2104. Epub 2003 Nov 13.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.