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Article

[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jan 2017

Ding Y, Zhang Y, Wang Y P, Zhao H Y, Chen X M, Xue X H, Bai X M, An Y F, Zhang Z Y, Tang X M, Zhao X D

Abstract excerpt

Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of...

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Source

Identifiers

PMID: 28072956
DOI: 10.3760/cma.j.issn.0578-1310.2017.01.006

Genes

STAT3

Variants

Provenance

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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