TY  - JOUR
AU  - Hong, Ying
AU  - Nanthapisal, Sira
AU  - Omoyinmi, Ebun
AU  - Olbrich, Peter
AU  - Neth, Olaf
AU  - Speckmann, Carsten
AU  - Lucena, Jose Manuel
AU  - Gilmour, Kimberly
AU  - Worth, Austen
AU  - Genomics England Research Consortium
AU  - Klein, Nigel
AU  - Eleftheriou, Despina
AU  - Brogan, Paul
PY  - 2019
DO  - 10.3389/fimmu.2019.02589
UR  - http://hdl.handle.net/10668/14766
T2  - Frontiers in immunology
AB  - Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of...
LA  - en
KW  - C1q deficiency
KW  - SHORT syndrome
KW  - activated PI3Kδ syndrome type 2
KW  - digital vasculitis
KW  - hyper-IgM syndrome
KW  - immunodeficiency
KW  - Adolescent
KW  - Class I Phosphatidylinositol 3-Kinases
KW  - Complement C1q
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Humans
KW  - Immunophenotyping
KW  - Phenotype
KW  - Primary Immunodeficiency Diseases
KW  - Whole Genome Sequencing
TI  - Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
TY  - research article
VL  - 10
ER  -