Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency.

doi:10.1016/j.jaut.2015.06.002

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Article

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency.

Journal of autoimmunity - 1 Aug 2015

van Schaarenburg Rosanne A, Schejbel Lone, Truedsson Lennart, Topaloglu Rezan, Al-Mayouf Sulaiman M, Riordan Andrew, Simon Anna, Kallel-Sellami Maryam, Arkwright Peter D, Åhlin Anders, Hagelberg Stefan, Nielsen Susan, Shayesteh Alexander, Morales Adelaida, Tam Schuman, Genel Ferah, Berg Stefan, Ketel Arnoldus G, Merlijn van den Berg J, Kuijpers Taco W, Olsson Richard F, Huizinga Tom W J, Lankester Arjan C, Trouw Leendert A

Abstract excerpt

OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease...

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PMID: 26119135
DOI: 10.1016/j.jaut.2015.06.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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