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Disease association ontology term - MONDO:0015131 - combined immunodeficiency

Term summary

ID
MONDO:0015131
Name
combined immunodeficiency
Ontology or CV name
Disease association
Definition
A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.

Parents

Annotation

Disease association

MONDO:0008840 - ataxia telangiectasia

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MONDO:0012650 - Cernunnos-XLF deficiency

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MONDO:0014391 - combined immunodeficiency due to CTPS1 deficiency

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MONDO:0044725 - combined immunodeficiency due to GINS1 deficiency

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MONDO:0011686 - DNA ligase IV deficiency

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MONDO:0970994 - immunodeficiency 120

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MONDO:0011338 - Omenn syndrome

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MONDO:0009973 - reticular dysgenesis

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MONDO:0015974 - severe combined immunodeficiency

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MONDO:0014168 - severe combined immunodeficiency due to CORO1A deficiency

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MONDO:0007064 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

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MONDO:0010518 - Wiskott-Aldrich syndrome

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MONDO:0010455 - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

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