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

Author:

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.

Funder

IMI JU

VIDI

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference37 articles.

1. C1q and systemic lupus erythematosus;Walport;Immunobiology,1998

2. Complement deficiency and autoimmunity;Walport;Ann. N. Y. Acad. Sci.,1997

3. Clinical and immunological studies in a case of selective complete C1q deficiency;Berkel;Clin. Exp. Immunol.,1979

4. A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual;McAdam;Immunogenetics,1988

5. Molecular basis of hereditary C1q deficiency–revisited: identification of several novel disease-causing mutations;Schejbel;Genes. Immun.,2011

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