Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

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作者： Nel,Dabrowska-Leonik ^[1] ; Agata Karolina,Pastorczak ^[2] ; Katarzyna,Bąbol-Pokora ^[2] ; Katarzyna,Bernat-Sitarz ^[1] ; Barbara,Piątosa ^[3] ; Edyta,Heropolitańska-Pliszka ^[1] ; Magdalena M,Kacprzak ^[4] ; Krzysztof,Kalwak ^[5] ; Katarzyna,Gul ^[5] ; Mirjam,van der Burg ^[6] ; Marek,Ussowicz ^[5] ; Malgorzata,Pac ^[1]

作者单位： Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland. ^[1] Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland. ^[2] Histocompatibility Laboratory, Children's Memorial Health Institute (IPCZD), Warsaw, Poland. ^[3] MedGen Medical Center, Warsaw, Poland. ^[4] Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland. ^[5] Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands. ^[6]

关键词 Immunoglobilins Omenn-like hematopoietic stem cell transplantation (HCST)immunodeficiency ligase 1

主题词女(雌)性(Female);人类(Humans);婴儿(Infant);重症联合免疫缺陷(Severe Combined Immunodeficiency);造血干细胞移植(Hematopoietic Stem Cell Transplantation);嵌合状态(Chimerism);贫血, 大细胞性(Anemia, Macrocytic)

DOI 10.3389/fimmu.2022.1033338

PMID 36341401

发布时间 2022-11-09

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