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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to DCLRE1C deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

Synonyms
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION; Severe combined immunodeficiency with sensitivity to ionizing radiation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. [from ORDO]

Available tests

49 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C, DCLRE1C
    Summary: DNA cross-link repair 1C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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