has material basis in germline mutation in NHEJ1 Cernunnos-XLF deficiency https://www.malacards.org/card/cernunnos_xlf_deficiency https://www.malacards.org/card/immunodeficiency_124_severe_combined severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation Cernunnos-XLF deficiency DOID:0061090 Orphanet:169079 SCTID:720853005 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome MESH:C566970 MEDGEN:369590 NHEJ1 deficiency SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency GARD:0017045 MONDO:0012650 Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Cernunnos deficiency combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome Cernunnos XLFD OMIM:611291 UMLS:C1969799 T-B- severe combined immunodeficiency non-SCID combined immunodeficiency familial severe combined immunodeficiency