Cernunnos-XLF deficiency

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Cernunnos-XLF deficiency

Synonyms: Cernunnos XLFD | Cernunnos deficiency | Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome | NHEJ1 deficiency

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

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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Cernunnos-XLF deficiency?

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Clinical Trials

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