Severe Combined Immunodeficiency with Absence of T and B Cells

Preferred Label : Severe Combined Immunodeficiency with Absence of T and B Cells;

NCIt definition : An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T and B cell immunity. The peripheral T and B lymphocytes are absent or in very low counts.;

Details

Origin ID

C61238;

UMLS CUI

C1883020;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
associated_with_malfunction_of_gene_product
- Nonhomologous End-Joining Factor 1 [NCIt concept]
disease_has_associated_gene
- NHEJ1 Gene [NCIt concept]
- NHEJ1 wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Immune System [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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