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Article

A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.

BMC pediatrics - 2 Mar 2026

Wu Ping, Zhao Jing, Yu Zilong, Li Hongwei, Liu Zhenwei, Peng Yinghui, Cai Zhe, Chen Dehui, Lu Chengyu

Abstract excerpt

BACKGROUND: Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by deficient B lymphocyte development and reduced serum immunoglobulin levels, leading to recurrent infections. Autosomal dominant agammaglobulinemia (AD-AGM) related to SPI1 gene mutations is extremely rare, with limited reported cases worldwide. CASE PRESENTATION: A 13-year-old Chinese girl was admitted with recurrent...

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Identifiers

PMID: 41772502
DOI: 10.1186/s12887-025-06498-4
PMCID: PMC13321488

Genes

SPI1
CD19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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