ArticleCureus2024
Digenic Inheritance of Hereditary Spherocytosis Type III and X-linked Agammaglobulinemia: Coexistence of Two Distinct Recessive Disorders in a Male Child.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.BMC pediatrics · 2026Article
- Estimating the Number of Polygenic Diseases Among Six Mutually Exclusive Entities of Non-Tumors and Cancer.International journal of molecular sciences · 2024Review
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Authors and funding
3 authors.
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Abstract
Hereditary spherocytosis (HS) is a common inherited hemolytic disease caused by mutations in genes encoding proteins crucial to the red blood cell (RBC) membrane, leading to a change in RBC shape from biconcave to spherical. There are five distinct types of hereditary spherocytosis, with types III and V being autosomal recessive and types I, II, and IV autosomal dominant. X-linked agammaglobulinemia (XLA) is a common inborn error of immunity that impairs B cell maturation and differentiation. We report a case of a two-year-old Saudi boy with persistent anemia, recurrent chest infections, and a subgaleal abscess. A whole exome sequencing study revealed digenic inheritance of hereditary spherocytosis type III and XLA. Despite a variant of uncertain significance in the Bruton's tyrosine kinase (BTK) gene, the patient's clinical and biochemical profile strongly indicated XLA. This case highlights how digenic inheritance can manifest as a complex phenotype, illustrating the challenges in diagnosing and managing patients with multigenic diseases.
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