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Allergy|July 21, 2021
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyBurcu Kolukisa, Dilek Baser, Bengu Akcam, et al.Journal of Pediatric Hematology/Oncology|August 29, 2022
Central Nervous System Fungal Infections in Children With Leukemia and Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter StudySerap Karaman, Rejin Kebudi, Hande Kizilocak, et al.Proceedings of the National Academy of Sciences of the United States of America|December 9, 2016
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiencyRomain Lévy, Satoshi Okada, Vivien Béziat, et al.Journal of Clinical Immunology|August 14, 2021
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous CandidiasisNatalie Frede, Jessica Rojas-Restrepo, Andrés Caballero Garcia de Oteyza, et al.The Journal of Allergy and Clinical Immunology|April 5, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsAtfa Sassi, Sandra Lazaroski, Gang Wu, et al.The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.The Journal of Allergy and Clinical Immunology|March 1, 2015
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiencyKarin R Engelhardt, Michael E Gertz, Sevgi Keles, et al.The Journal of Allergy and Clinical Immunology|November 7, 2023
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective studyMarco Fischer, Peter Olbrich, Jérôme Hadjadj, et al.Blood|July 1, 2020
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiencySujal Ghosh, Sevgi Köstel Bal, Emily S J Edwards, et al.The Journal of Experimental Medicine|December 14, 2022
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiencyRomain Lévy, Florian Gothe, Mana Momenilandi, et al.Pageof 16