Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings.

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Title: Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings.
Authors: Roderick MR; Paediatric Immunology and Infectious Diseases, Bristol Royal Hospital for Children, Bristol, UK. marion.roderick@uhbw.nhs.uk., Jefferson L; Paediatric Immunology and Infectious Diseases, Bristol Royal Hospital for Children, Bristol, UK.; Paediatric Rheumatology Department, Bristol Royal Hospital for Children, Bristol, UK., Renton W; Paediatric Rheumatology Department, Bristol Royal Hospital for Children, Bristol, UK., Belot A; CIRI, Centre International de Recherche en Infectiologie/International Center for Infectiology Research, Inserm, Ecole Normale Superieure de Lyon, Universite Lyon 1, CNRS, UMR5308, U1111, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Unit, National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in childrEn (RAISE), Hospices Civils de Lyon, Lyon, France.
Corporate Authors: PRKCD Consortium
Source: Journal of clinical immunology [J Clin Immunol] 2023 May; Vol. 43 (4), pp. 703-705. Date of Electronic Publication: 2023 Jan 18.
Publication Type: Letter
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-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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Description
ISSN:1573-2592
DOI:10.1007/s10875-022-01416-0