immunodeficiency—severe combined—due to NHEJ1 deficiency

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immunodeficiency—severe combined—due to NHEJ1 deficiency2016-12-25T07:27:29+00:00

immunodeficiency—severe combined—due to NHEJ1 deficiency

IMMUNOLOGY

Definition A form (OMIM:611291) of severe combined immunodeficiencydue to NHEJ1 deficiency, which is characterised by profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionising radiation, variably accompanied by microcephaly and growth retardation.

*A genetically and clinically heterogeneous group of rare immune system disorders characterised by leukopenia, impaired humoral (low or absent antibody levels) and cell-mediated (absent T-cell-mediated cell immunity due to defective T-cell development) immunity. SCID patients present in infancy with recurrent, persistent infections by opportunistic organisms.  

Molecular pathology Defects of NHEJ1, which encodes a DNA repair factor essential for nonhomologous end-joining of breaks of double-stranded DNA, cause immunodeficiency—severe combined—due to NHEJ1 deficiency. 

Synonyms NHEJ1 syndrome, SCID—autosomal recessive—T cell-negative—B-cell negative, NK cell positive—with microcephaly—growth retardation—and sensitivity to ionising radiation, severe combined immunodeficiency with microcephaly—growth retardation and sensitivity to ionising radiation, severe combined immunodeficiency with sensitivity to ionising radiation due to NHEJ1 deficiency 

References http://www.uniprot.org/uniprot/Q9H9Q4
http://www.omim.org/entry/611291

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