C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

Clinical Immunology

Volumn 124, Issue 1, 2007, Pages 33-40

  Marquart, Hanne Vibeke ^a   Schejbel, Lone ^a   Sjoholm, Anders ^b   Martensson, Ulla ^b   Nielsen, Susan ^a   Koch, Anders ^c   Svejgaard, Arne ^a   Garred, Peter ^a  

^a Rigshospitalet   (Denmark)

^b LUND UNIVERSITY   (Sweden)

^c STATENS SERUM INSTITUT   (Denmark)

Author keywords

Autoimmunity; C1q deficiency; Classical pathway; Complement; Infections; Mutation; Primary immunodeficiency; SLE

Indexed keywords

AUTOANTIBODY; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C1Q ANTIBODY; CORTICOSTEROID; CYCLOPHOSPHAMIDE; HAEMOPHILUS INFLUENZAE TYPE B VACCINE; HYDROXYCHLOROQUINE; METHOTREXATE; PENICILLIN G; PNEUMOCOCCUS VACCINE;

ANTIBODY DETECTION; ARTHRITIS; ARTICLE; CASE REPORT; CAUSE OF DEATH; CHILD; CODON; COMPLEMENT ACTIVATION; COMPLEMENT COMPONENT C1Q DEFICIENCY; COMPLEMENT DEFICIENCY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ESKIMO; FEMALE; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MIXED CONNECTIVE TISSUE DISEASE; MOLECULAR BIOLOGY; MOLECULAR WEIGHT; MULTIPLE ORGAN FAILURE; PNEUMOCYSTIS CARINII; PNEUMONIA; PRIORITY JOURNAL; STREPTOCOCCUS PNEUMONIAE; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ARGININE; CHILD; CHILD, PRESCHOOL; COMPLEMENT C1Q; COMPLEMENT HEMOLYTIC ACTIVITY ASSAY; CONSANGUINITY; FEMALE; GLYCINE; GREENLAND; HOMOZYGOTE; HUMANS; INUITS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SIBLINGS;

EID: 34250779543     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2007.03.547     Document Type: Article

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