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Cernunnos-XLF deficiency

rare

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

Identifiers
MONDO:0012650 OMIM:611291Orphanet:169079
Causal genes
NHEJ1
Part of
T-B- severe combined immunodeficiencyFamilial severe combined immunodeficiency
Also known as
Cernunnos deficiency · Cernunnos XLFD · combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome · combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome · NHEJ1 deficiency

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