A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
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| Title: | A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD. |
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| Authors: | Lu HY; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Vaseghi-Shanjani M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Lam AJ; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Surgery, The University of British Columbia, Vancouver, BC, Canada., Sharma M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Mohajeri A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada., Silva LBR; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada., Gillies J; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Surgery, The University of British Columbia, Vancouver, BC, Canada., Yang GX; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada., Lin S; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada., Fu MP; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.; Genome Science and Technology Program, Faculty of Science, The University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada., Salman A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada., Rahmanian R; Division of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Armstrong L; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada., Halparin J; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Hematology, Oncology & Bone Marrow Transplant, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Yang CL; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Respiratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Chilvers M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Respiratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Henkelman E; Division of Plastic Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Rehmus W; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Dermatology, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Morrison D; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Setiadi A; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Mostafavi S; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.; Department of Statistics, The University of British Columbia, Vancouver, BC, Canada., Kobor MS; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada., Kozak FK; Division of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Biggs CM; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Immunology, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., van Karnebeek C; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada., Hildebrand KJ; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.; Division of Immunology, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Levings MK; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Surgery, The University of British Columbia, Vancouver, BC, Canada.; School of Biomedical Engineering, The University of British Columbia, Vancouver, BC, Canada., Turvey SE; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada. sturvey@bcchr.ca.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. sturvey@bcchr.ca.; Division of Immunology, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada. sturvey@bcchr.ca. |
| Corporate Authors: | Anna Lehman on behalf of the Care4Rare Canada Consortium |
| Source: | Journal of clinical immunology [J Clin Immunol] 2025 Apr 28; Vol. 45 (1), pp. 89. Date of Electronic Publication: 2025 Apr 28. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-2592 |
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| DOI: | 10.1007/s10875-025-01882-2 |
