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GENATLAS PHENOTYPE
last update : 06-09-2011
Symbol SCIDA
Location 10p13
Name severe combined immunodeficiency disease
Corresponding gene DCLRE1C
Other symbol(s) RS-SCID, SCID
Main clinical features
  • characterized by lack of B and T cells with increased sensitivity to ionizing radiations and impaird V(D)J recombination/repair deficiency
  • severe combined immunodeficiency syndrome associated with cellular radiosensitivity
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name DNA cross-link repair 1C
    Remark(s)
    Genotype/Phenotype correlations
  • mutations that abrogate or reduce gene activity result in defective V(D)J recombination and impaired B and T lymphocyte development (PMID: 21147755))
  • partial loss of DCLRE1C alleles that lead to truncation of the non-conserved C-terminus may have greater oncogenic potential compared with complete null alleles (PMID: 21147755))
  • hypomorphic mutations result in combined immunodeficiency syndromes of varying severity, but, in addition, are hypothesized to predispose to lymphoid malignancy (PMID: 21147755))