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Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.

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Title: Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.
Authors: Assing K; Department of Clinical Immunology, Odense University Hospital (OUH), Odense, Denmark., Christensen EB; Department of Clinical Immunology, Odense University Hospital (OUH), Odense, Denmark., Dellgren C; Department of Clinical Immunology, Odense University Hospital (OUH), Odense, Denmark., Soelberg KK; Department of Clinical Immunology, Odense University Hospital (OUH), Odense, Denmark., Fagerberg C; Department of Genetics, Odense University Hospital (OUH), Odense, Denmark., Elle IC; Department of Genetics, Odense University Hospital (OUH), Odense, Denmark., Larsen BD; Department of Genetics, Odense University Hospital (OUH), Odense, Denmark., Grosen D; Department of Pediatrics, Odense University Hospital (OUH), Odense, Denmark., Booth C; Infection, Immunity and Inflammation Department, UCL Great Ormond Street Institute of Child Health, UCL, London, UK., Marquart HV; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology Tissue typing laboratory, Copenhagen University Hospital, Copenhagen, Denmark., Masmas TN; The Child and Adolescent Clinic, Copenhagen University Hospital, Copenhagen, Denmark., Hartling HJ; Department of Clinical Immunology Tissue typing laboratory, Copenhagen University Hospital, Copenhagen, Denmark.
Source: Immunity, inflammation and disease [Immun Inflamm Dis] 2025 Dec; Vol. 13 (12), pp. e70307.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: John Wiley and Sons Ltd Country of Publication: England NLM ID: 101635460 Publication Model: Print Cited Medium: Internet ISSN: 2050-4527 (Electronic) Linking ISSN: 20504527 NLM ISO Abbreviation: Immun Inflamm Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+and+Sons+Ltd%22">John Wiley and Sons Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101635460 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2050-4527 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220504527%22">20504527 </searchLink><i>NLM ISO Abbreviation: </i>Immun Inflamm Dis <i>Subsets: </i>MEDLINE
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              Text: 2025 Dec
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