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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))