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Article

New C1q mutation in a Tunisian family.

Immunobiology - 1 Mar 2014

Jlajla Hend, Sellami Maryam Kallel, Sfar Imen, Laadhar Lilia, Zerzeri Yousr, Abdelmoula Mohamed Slim, Gorgi Yousr, Dridi Marie-Françoise, Makni Sondes

Abstract excerpt

Hereditary C1q deficiency (C1qD) is the most penetrant genetic factor predisposing to the development of lupus pathology with more than 93% of C1q deficient patients developing this autoimmune pathology throughout their life. It is a rare autosomal recessive deficiency, with only 67 cases reported so far including one Tunisian girl who died at the age of three from complications resulting from severe systemic...

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PMID: 24331529
DOI: 10.1016/j.imbio.2013.10.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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