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Journal of Human Immunity|May 22, 2026
Novel de novo dominant <i>PSMB10</i> variants in three patients with immune deficiency and liver diseaseBenjamin Fournier, Léa Poirier, Vincent Abramowski, et al.
Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.
Pediatric Research|June 11, 2026
Type I interferon signature does not correlate with disease activity in Blau syndromeBenjamin Fournier, Héloïse Reumaux, Isabelle Melki, et al.
Journal of Clinical Immunology|January 9, 2022
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter SequenceZineb Sbihi, Kay Tanita, Camille Bachelet, et al.
Blood|August 27, 2020
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignanciesHye Sun Kuehn, Julie E Niemela, Jennifer Stoddard, et al.
Rheumatology (Oxford, England)|September 1, 2025
Allogeneic hematopoietic stem cell transplantation for severe Still's disease: a retrospective report of 3 pediatric patientsMuriel Schmutz, Jade Cognard, Alice Hadchouel, et al.
Blood|November 8, 2012
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomesRebecca A Marsh, Kanchan Rao, Prakash Satwani, et al.
Frontiers in Immunology|January 28, 2022
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal StudyAkihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, et al.
The Journal of Craniofacial Surgery|September 4, 2025
Timeline of Amelogenesis Imperfecta ManagementAlexandra Jimenez-Armijo, Paola L Carvajal Monroy, Saranda Ombashi, et al.
The Journal of Allergy and Clinical Immunology|June 20, 2014
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriersClaire Aguilar, Christelle Lenoir, Nathalie Lambert, et al.
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