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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.
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