Article
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.
Molecular immunology - 1 Dec 2013
Bajin İnci Yaman, Ayvaz Deniz Çağdaş, Ünal Sule, Özgür Tuba Turul, Çetin Mualla, Gümrük Fatma, Tezcan İlhan, de Villartay Jean-Pierre, Sanal Özden
Abstract excerpt
SCID can be caused by various genetic mutations leading to distinctive phenotypes according to the presence of T, B and NK cells. Artemis is a gene encoded on chromosome 10p. The deficiency of this molecule causes an inability to repair DNA double strand breaks and is one of the causes of radiosensitive T-B-NK+ SCID. The syndrome usually presents with opportunistic infections in the first years of life that leads...
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