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The Journal of Allergy and Clinical Immunology|August 25, 2016
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studyTanya I Coulter, Anita Chandra, Chris M Bacon, 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.Journal of Crohn'S & Colitis|May 23, 2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre StudyFabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, et al.The Journal of Experimental Medicine|April 20, 2022
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotesPaul Bastard, Kuang-Chih Hsiao, Qian Zhang, et al.Journal of Medical Genetics|October 28, 2015
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementMegana K Prasad, Véronique Geoffroy, Serge Vicaire, et al.The Journal of Allergy and Clinical Immunology|January 13, 2023
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patientsQuentin Riller, Jacques Fourgeaud, Julie Bruneau, 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.Annals of the Rheumatic Diseases|November 18, 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesisSophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, et al.Nature|November 8, 2023
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiencyTom Le Voyer, Audrey V Parent, Xian Liu, et al.The Journal of Allergy and Clinical Immunology|June 30, 2023
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunityMaria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, et al.Pageof 15