Cernunnos-XLF deficiency

Definition

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

Also known as Cernunnos deficiency, Cernunnos XLFD, Cernunnos-XLF deficiency, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, NHEJ1 deficiency — per MONDO

Also identified as

• DOID 0061090 per MONDO
• MESH C566970 per MONDO
• OMIM 611291 per MONDO
• Orphanet 169079 per MONDO
• SCTID 720853005 per MONDO
• UMLS C1969799 per MONDO