Ying Hong Sira Nanthapisal Ebun Omoyinmi Peter Olbrich Olaf Neth Carsten Speckmann Jose Manuel Lucena Kimberly Gilmour Austen Worth Genomics England Research Consortium Nigel Klein Despina Eleftheriou Paul Brogan J C Ambrose P Arumugam E L Baple M Bleda F Boardman-Pretty J M Boissiere C R Boustred H Brittain M J Caulfield G C Chan C E H Craig L C Daugherty A de Burca A Devereau G Elgar R E Foulger T Fowler P Furió-Tarí J M Hackett D Halai A Hamblin S Henderson J E Holman T J P Hubbard K Ibáñez R Jackson L J Jones D Kasperaviciute M Kayikci L Lahnstein K Lawson S E A Leigh I U S Leong F J Lopez F Maleady-Crowe J Mason E M McDonagh L Moutsianas M Mueller N Murugaesu A C Need C A Odhams C Patch D Perez-Gil D Polychronopoulos J Pullinger T Rahim A Rendon P Riesgo-Ferreiro T Rogers M Ryten K Savage K Sawant R H Scott A Siddiq A Sieghart D Smedley K R Smith A Sosinsky W Spooner H E Stevens A Stuckey R Sultana E R A Thomas S R Thompson C Tregidgo A Tucci E Walsh S A Watters M J Welland E Williams K Witkowska S M Wood M Zarowiecki
10.3389/fimmu.2019.02589
Front Immunol
2019 Nov 11;10:2589.
c1q deficiency short syndrome activated pi3kδ syndrome type 2 digital vasculitis hyper-igm syndrome immunodeficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/31781101/
Class I Phosphatidylinositol 3-Kinases / metabolism Complement C1q / deficiency Primary Immunodeficiency Diseases / etiology Primary Immunodeficiency Diseases / metabolism
Class I Phosphatidylinositol 3-Kinases / metabolism Complement C1q / deficiency Primary Immunodeficiency Diseases / etiology Primary Immunodeficiency Diseases / metabolism Case Reports Research Support, Non-U.S. Gov't Adolescent Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Immunophenotyping Phenotype Primary Immunodeficiency Diseases / diagnosis Whole Genome Sequencing Complement C1q Class I Phosphatidylinositol 3-Kinases PIK3CD protein, human Activated PI3K-delta Syndrome
PMC6859795
31781101
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
2019