title: Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.
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.
authors.affiliation: Department of Pediatrics, Hacettepe University Ihsan Doğramacı Childrens Hospital, Ankara, Turkey. Electronic address: inciyaman@gmail.com.
authors.forename: İnci Yaman
authors.initials: İY
authors.lastname: Bajin
authors.forename: Deniz Çağdaş
authors.initials: DÇ
authors.lastname: Ayvaz
authors.forename: Sule
authors.initials: S
authors.lastname: Ünal
authors.forename: Tuba Turul
authors.initials: TT
authors.lastname: Özgür
authors.forename: Mualla
authors.initials: M
authors.lastname: Çetin
authors.forename: Fatma
authors.initials: F
authors.lastname: Gümrük
authors.forename: İlhan
authors.initials: İ
authors.lastname: Tezcan
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: de Villartay
authors.forename: Özden
authors.initials: Ö
authors.lastname: Sanal
mesh_terms: D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins; D003937:Diagnosis, Differential; D004720:Endonucleases; D017809:Fatal Outcome; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D054066:Leukemia, Large Granular Lymphocytic / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C426344:DCLRE1C protein, human; D004720:Endonucleases
keywords: Artemis; Hyper IgM syndrome; SCID