IL-7R-Alpha-deficient Severe Combined Immunodeficiency

Preferred Label : IL-7R-Alpha-deficient Severe Combined Immunodeficiency;

NCIt related terms : IL7R Deficiency; SCID, T-, normal B and NK cells, IL7R alpha deficiency;

NCIt definition : An autosomal recessive form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell positive, and with mutations in the gene encoding interleukin-7 receptor alpha chain protein. This class of SCID accounts for approximately 10% of all SCID cases.;

NCI Metathesaurus CUI : CL1926477;

Détails

Origin ID

C203825;

UMLS CUI

C5909448;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- IL7R Gene [NCIt concept]
- PTPRC Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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