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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.
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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  Data: A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
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  Data: <searchLink fieldCode="AU" term="%22Lu+HY%22">Lu HY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vaseghi-Shanjani+M%22">Vaseghi-Shanjani M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lam+AJ%22">Lam AJ</searchLink>; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Surgery, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Sharma+M%22">Sharma M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mohajeri+A%22">Mohajeri A</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Silva+LBR%22">Silva LBR</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.<br /><searchLink fieldCode="AU" term="%22Gillies+J%22">Gillies J</searchLink>; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Surgery, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Yang+GX%22">Yang GX</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.<br /><searchLink fieldCode="AU" term="%22Fu+MP%22">Fu MP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Salman+A%22">Salman A</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Rahmanian+R%22">Rahmanian R</searchLink>; Division of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Armstrong+L%22">Armstrong L</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Halparin+J%22">Halparin J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yang+CL%22">Yang CL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chilvers+M%22">Chilvers M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Henkelman+E%22">Henkelman E</searchLink>; Division of Plastic Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Rehmus+W%22">Rehmus W</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Morrison+D%22">Morrison D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Setiadi+A%22">Setiadi A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mostafavi+S%22">Mostafavi S</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.; Department of Statistics, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kobor+MS%22">Kobor MS</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kozak+FK%22">Kozak FK</searchLink>; Division of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Biggs+CM%22">Biggs CM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Karnebeek+C%22">van Karnebeek C</searchLink>; 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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.
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