ArticleBMC pediatrics2026
A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.
Article in BMC pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAgammaglobulinemia 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 respiratory infections for over 6 years and acute cough/fever lasting 1 week. Laboratory tests showed significantly decreased IgG (3.94 g/L) and IgA (0 g/L) levels, with a B lymphocyte ratio (CD3
conclusionThis report describes a novel SPI1 variant (c.566T > C, p.Ile189Thr) in a Chinese girl with clinical features of AD-AGM. The variant has not been recorded in the Genome Aggregation Database (gnomAD) or Chinese reference databases. The novel SPI1 variant expands the genotypic spectrum of agammaglobulinemia and provides a potential candidate for further functional and therapeutic research. Whole-exome sequencing may facilitate early identification of such rare variants in patients with suspected immunodeficiency.
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