Cernunnos-XLF deficiency
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
MONDO:0031520
familial severe combined immunodeficiency
is_a
Cernunnos XLFD
exact
Cernunnos deficiency
exact
Cernunnos-XLF deficiency
exact
NHEJ1 deficiency
exact
SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency
related
SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation
related
combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome
exact
combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
exact
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation
related
severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency
related
SPCC24B10.14c