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severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID)

Defects in NHEJ1 are the cause of severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID); also known as autosomal recessive T cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation or NHEJ1 syndrome. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations.

A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).

OTHER NAME(S): SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

ABREVIATION(S):
NHEJ1-SCID

TYPE: microcephaly, neurodegenerative disease, skeletal abnormalities, sensitivity to radiation, growth retardation, immunodeficiency

Related patway(s): non-homologous end-joining (NHEJ)

DNAtraffic protein(s) related to disease: NHEJ1 (Cernunnos)

OMIM: 611291

Last modification date: Feb. 6, 2012