Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.

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Bibliographic Details
Title: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Authors: Chiang SCC; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: sam.chiang@cchmc.org., Yang L; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Owsley E; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Akeno N; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Cobb C; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hartog NL; Allergy and Immunology, Corwell Health, Helen Devos Children's Hospital, College of Human Medicine, Michigan State University, Grand Rapids, Mich., Elizalde A; Allergy and Asthma, Texas Health, San Antonio, Tex., Seroogy CM; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis., Blanchard-Rohner G; Unit of Immunology, Vaccinology and Rheumatology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals and University of Geneva, Geneva, Switzerland., Peng XP; Division of Genetic Medicine, Department of Pediatrics, Montefiore Medical Center, Bronx, NY., Brager R; Division of Rheumatology, Immunology and Allergy, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Buchbinder D; Division of Hematology, Children's Hospital of Orange County, Orange, Calif., Cook E; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Phillips L; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada., Plecas Maricic S; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada., Kalashnikova T; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada., Dimitriades VR; Division of Pediatric Allergy, Immunology & Rheumatology, UC Davis Health, Sacramento, Calif., Murguía-Favela LE; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Gutierrez MJ; Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md., Shrikhande A; Department of Medicine and Pediatrics, Division of Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY., Steele M; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Wilson JL; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis., Wright NAM; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Marsh R; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Bleesing J; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Jordan MB; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Marwaha AK; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada. Electronic address: ashish.marwaha@ahs.ca.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Aug; Vol. 156 (2), pp. 270-278. Date of Electronic Publication: 2025 Apr 10.
Publication Type: Journal Article
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1097-6825
DOI:10.1016/j.jaci.2025.04.003