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Article

DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sjögren's Syndrome.

International journal of molecular sciences - 13 Feb 2024

Opoka-Winiarska Violetta, Winiarska Natalia, Lejman Monika, Gdak Małgorzata, Gosik Krzysztof, Lewandowski Filip, Niedźwiedzka-Rystwej Paulina, Grywalska Ewelina

Abstract excerpt

This study investigated the association between autoimmunity and immunodeficiency in pediatric patients, focusing on the case of a 15-year-old female diagnosed with juvenile idiopathic arthritis (JIA) and secondary Sjögren's syndrome. The patient presented with a variety of symptoms, including joint pain, bronchial asthma, leukopenia, and skin lesions. Genetic testing revealed a de novo mutation in the DOCK8...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38396937
DOI: 10.3390/ijms25042259
PMCID: PMC10888949

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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