Also Known As
Cernunnos XLFDCernunnos deficiencyCernunnos-XLF deficiencyNHEJ1 deficiencycombined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndromecombined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndromeNhej1 syndromeSCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiencySCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiencySCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiationSCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiationsevere combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiationsevere combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationsevere combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiencysevere combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency
Definition
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.