JAK3-deficient Severe Combined Immunodeficiency

Preferred Label : JAK3-deficient Severe Combined Immunodeficiency;

NCIt synonyms : Autosomal Recessive T cell-negative, B cell-positive, NK cell-negative Severe Combined Immunodeficiency; JAK3 SCID; T-B Severe Combined Immunodeficiency due to JAK3 deficiency; Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative; T cell-negative, B cell-positive, NK cell-negative SCID; Autosomal Recessive T-B NK- SCID;

NCIt related terms : JAK3 deficiency; T- B NK-, JAK3 mutation;

NCIt definition : An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the JAK3 gene, encoding tyrosine-protein kinase JAK3. It is characterized by decreased concentrations of T-cells and NK-cells and normal concentrations of B-cells.;

NCI Metathesaurus CUI : CL1642745;

Details

Origin ID

C176807;

UMLS CUI

C1833275;

Currated CISMeF NLP mapping
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH concept]
disease_mapped_to_gene
- JAK3 Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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