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Pediatric Transplantation|May 9, 2026
Successful Treatment of POLD1 Deficiency With HSCT: Report of Two Years' ExperienceSevgi Keles, Vedat Uygun, Mehmet Ali Karaselek, et al.Human Mutation|September 13, 2013
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalitiesHanna IJspeert, Adilia Warris, Michiel van der Flier, et al.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|October 19, 2024
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthoodEsra Hazar, Mehmet Ali Karaselek, Hasan Kapakli, et al.Clinical Immunology (Orlando, Fla.)|October 22, 2024
DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndromeFatma Betul Oktelik, Muyun Wang, Sevgi Keles, et al.Pediatric Dermatology|March 20, 2015
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisitaSabina Bis, Sheilagh M Maguiness, Stephen E Gellis, et al.The Journal of Allergy and Clinical Immunology|October 20, 2019
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1Ye Cui, Sevgi Keles, Louis-Marie Charbonnier, et al.Journal of Clinical Immunology|October 24, 2017
DOCK8 Deficiency Presenting as an IPEX-Like DisorderFayhan J Alroqi, Louis-Marie Charbonnier, Sevgi Keles, et al.The Journal of Allergy and Clinical Immunology|September 15, 2014
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cellsErin Janssen, Henner Morbach, Sumana Ullas, et al.The Journal of Allergy and Clinical Immunology|June 12, 2017
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulationFayhan J Alroqi, Louis-Marie Charbonnier, Safa Baris, et al.The Journal of Allergy and Clinical Immunology|June 29, 2016
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T<sub>H</sub>17 cell differentiationSevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, et al.Pageof 10