Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.

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Sundin M, Uhlin M, Gaballa A, Ramme K, Marits P, Nilsson J

Pediatr Allergy Immunol - (-) - [2017-10-05; online 2017-10-05]

Immunodeficiency associated with mutations in the DNA cross-link repair 1C gene (DCLRE1C) can have variable clinical presentations including severe combined immunodeficiency (SCID), Omenn syndrome, atypical SCID or common variable immunodeficiency (CVID) (1-3). DCLRE1C encodes the protein Artemis, a nuclease with intrinsic 5'-3' exonuclease activity on single-stranded DNA that is involved in non-homologous end joining (NHEJ). Artemis is essential for V(D)J recombination of the immunoglobulin and T-cell receptor genes that occur during B- and T-cell development.

Clinical Genomics Stockholm [Service]

PubMed 28981982

DOI 10.1111/pai.12812

Crossref 10.1111/pai.12812