Adrian M Shields Alistair T Pagnamenta Andrew J Pollard OxClinWGS Jenny C Taylor Holger Allroggen Smita Y Patel Samantha J L Knight Niko Popitsch Carme Camps Melissa M Pentony Erika M Kvikstad Lukas Lange Mona Hashim Steve Harris Mark Tilley Dimitris Vavoulis Pamela Kaisaki Vassilis Ragoussis Matteo Feral Anna H Schuh Helene Dreau Kate E Ridout Pauline Robbe Pavlos Antoniou Outi Salminen Maite Cabes Laura Lopez Angela Hamblin John Taylor Conrad Smith
10.3389/fimmu.2019.01150
Front Immunol
2019 Jun 7;10:1150.
complement deficiency complement factor i genomic medicine neuroinflammation pneumococcal infection primary immunodeficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/31231365/
Complement C3 / deficiency Hereditary Complement Deficiency Diseases / diagnosis
Complement C3 / deficiency Hereditary Complement Deficiency Diseases / diagnosis Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Child, Preschool Complement C3 / genetics Female Genomics / methods Hereditary Complement Deficiency Diseases / genetics Humans Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / genetics Complement C3 Complement Factor I Deficiency
PMC6568211
31231365
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods
2019