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Disease association ontology term - MONDO:0017855 - T-B- severe combined immunodeficiency

Term summary

ID
MONDO:0017855
Name
T-B- severe combined immunodeficiency
Ontology or CV name
Disease association
Definition
T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.

Parents

Annotation

Disease association

MONDO:0012650 - Cernunnos-XLF deficiency

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Genes:

MONDO:0011686 - DNA ligase IV deficiency

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Genes:

MONDO:0011338 - Omenn syndrome

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MONDO:0009973 - reticular dysgenesis

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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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