title: Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
abstract: SCID affects T and B cell differentiation and functions, presenting with severe opportunistic infections in the early postnatal period. It is fatal unless stem cell transplantation is performed. RS SCID forms are caused by defects in the NHEJ pathway, the enzymatic process required for the repair of DNA double-strand breaks. Cernunnos-XLF defect is one of the defects in this pathway. Here, we present two patients with Cernunnos-XLF defect, both having microcephaly, prominent growth retardation, and T-B-NK+SCID, one of whom had AHA. These patients received hematopoietic stem cells from HLA identical related donor without conditioning regimen and recovered without any complication. Now, both of the patients are well and alive seven and one yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation.
authors.affiliation: Department of Pediatrics, Section of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Çağdaş
authors.forename: Tuba Turul
authors.initials: TT
authors.lastname: Özgür
authors.forename: Gülten Türkkanı
authors.initials: GT
authors.lastname: Asal
authors.forename: Patrick
authors.initials: P
authors.lastname: Revy
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: De Villartay
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
authors.forename: Özden
authors.initials: Ö
authors.lastname: Sanal
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
mesh_terms: D016026:Bone Marrow Transplantation; D045643:DNA Repair Enzymes / Q000172:deficiency / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000601:surgery*
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; C508551:NHEJ1 protein, human; D045643:DNA Repair Enzymes