Abstract:
: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 to death if not treated with stem cell transplantation. The spectrum of the disease can be wide because of the heterogeneity of the mutations. Herein we present an atypical SCID (CID) patient with Artemis defect mimicking hyper IgM syndrome. Our patient had high serum IgM with low IgG and IgA levels, lymphocytosis and recurrent infections, intractable diarrhea, growth retardation, systemic CMV infection and sclerosing cholangitis. He also developed large granular lymphocytic leukemia and survived until the age of 6.5 years.
journal_name
Mol Immunoljournal_title
Molecular immunologyauthors
Bajin İY,Ayvaz DÇ,Ünal S,Özgür TT,Çetin M,Gümrük F,Tezcan İ,de Villartay JP,Sanal Ödoi
10.1016/j.molimm.2013.05.004subject
Has Abstractpub_date
2013-12-01 00:00:00pages
354-7issue
4eissn
0161-5890issn
1872-9142pii
S0161-5890(13)00172-7journal_volume
56pub_type
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