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Article

Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.

Current opinion in allergy and clinical immunology - 1 Dec 2024

Buso Helena, Triaille Clément, Flinn Aisling M, Gennery Andrew R

Abstract excerpt

PURPOSE OF REVIEW: C1q deficiency is a rare inborn error of immunity characterized by susceptibility to severe infections and profound immune dysregulation, with a systemic lupus erythematosus-like phenotype. The management of patients with C1q deficiency is challenged by the rarity of this condition and the wide clinical variability. This review aims to emphasize the importance of a thorough immunological and...

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PMID: 39479952
DOI: 10.1097/ACI.0000000000001034

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