Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections

Blood

Volumn 107, Issue 12, 2006, Pages 4865-4870

  Sprong, Tom ^b   Roos, Dirk ^b   Weemaes, Corry ^b   Neeleman, Chris ^b   Geesing, Christel L M ^b   Mollnes, Tom Eirik ^b   Van Deuren, Marcel ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4 BINDING PROTEIN; COMPLEMENT FACTOR D; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; GENOMIC DNA; MANNOSE BINDING LECTIN; PROPERDIN;

ARTICLE; BLOOD GROUP TYPING; CASE REPORT; COMPLEMENT ALTERNATIVE PATHWAY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; INFANT; MALE; MENINGOCOCCOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEPTIC SHOCK;

EID: 33745095332     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-07-2820     Document Type: Article

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