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Case Report: A novel homozygous splice-site variant in the C3 gene causing complete complement C3 deficiency in two unrelated Moroccan patients.

Frontiers in immunology - 1 Jan 2026

Oujane Chaymae, Hbibi Mohamed, Benhsaien Ibtihal, Naitobrah Aicha, Akhrichi Nassima, Aadam Zahra, Kalil Hajar, El Bakkouri Jalila, Bousfiha Ahmed Aziz, Ailal Fatima

Abstract excerpt

Complement component 3 (C3) plays a central role in innate immunity as a convergence point of the classical, alternative, and lectin pathways. Complete C3 deficiency is an extremely rare inborn error of immunity, typically associated with recurrent severe infections and, in some cases, immune complex-mediated or autoimmune manifestations. Despite its clinical significance, fewer than 50 cases have been reported...

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Identifiers

PMID: 42445183
DOI: 10.3389/fimmu.2026.1860941
PMCID: PMC13357244

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C3

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