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Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing

OBJECTIVES: Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well‐known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We describe two siblings with a heterozygous NM_001928.3(CFD):c....

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Veröffentlicht in:Clin Transl Immunology
Hauptverfasser: Langereis, Jeroen D, van der Molen, Renate G, de Kat Angelino, Corrie, Henriet, Stefanie S, de Jonge, Marien I, Joosten, Irma, Simons, Annet, Schuurs‐Hoeijmakers, Janneke HM, van Deuren, Marcel, van Aerde, Koen, van der Flier, Michiel
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2021
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8019133/
https://ncbi.nlm.nih.gov/pubmed/33841879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cti2.1256
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