Complement factor i deficiency: A not so rare immune defect. Characterization of new mutations and the first large gene deletion

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Alba Domínguez, María ^a,f   Lápez Lera, Alberto ^a,f   Garrido, Sofía ^a,f   Nozal, Pilar ^a   González Granado, Ignacio ^b   Melero, Josefa ^c   Soler Palacín, Pere ^d   Cámara, Carmen ^e   Lápez Trascasa, Margarita ^a,f  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c HOSPITAL INFANTA CRISTINA   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

C3 consumption; Complement deficiency; Complement factor I; Diagnostic flowchart; Large deletions; Recurrent infections

Indexed keywords

COMPLEMENT FACTOR I;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPLETE FACTOR I DEFICIENCY; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; INTRON; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN DEFECT; SCHOOL CHILD; WESTERN BLOTTING;

ADULT; BACTERIAL INFECTIONS; CHILD; CHILD, PRESCHOOL; COMPLEMENT C3; COMPLEMENT C4; COMPLEMENT FACTOR I; EXONS; FAMILY; FEMALE; GENE DELETION; GENETIC DISEASES, INBORN; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; RECURRENCE; SPAIN;

EID: 84862267876     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-42     Document Type: Article

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