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Article

Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report.

Journal of clinical immunology - 19 May 2026

Zhang Ting, Zhou Zhou, Li Weimiao, Chen Yongkang, Tang Hai, Zhou Dongmei

Abstract excerpt

OBJECTIVE: To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant. METHODS: Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation sequencing (NGS), and Sanger sequencing for familial validation. RESULTS: A de novo heterozygous...

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Identifiers

PMID: 42151600
DOI: 10.1007/s10875-026-02026-w
PMCID: PMC13354636

Genes

RELA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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