TY  - GEN 
AU  - Martín-Nalda, A.
AU  - Fortuny, C.
AU  - Rey Cordo, Carmen Lourdes
AU  - Bunney, T. D.
AU  - Alsina, L.
AU  - Esteve-Solé, A.
AU  - Bull, D.
AU  - Anton, M. C.
AU  - Basagaña, M.
AU  - Casals, F.
AU  - Deyá, A.
AU  - García-Prat, M.
AU  - Gimeno, R.
AU  - Juan, M.
AU  - Martinez-Banaclocha, H.
AU  - Martinez-Garcia, J. J.
AU  - Mensa-Vilaró, A.
AU  - Rabionet, R.
AU  - Martin-Begue, N.
AU  - Rudilla, F.
AU  - Yagüe, J.
AU  - Estivill, X.
AU  - García-Patos, V.
AU  - Pujol, R. M.
AU  - Soler-Palacín, P.
AU  - Katan, M.
AU  - Pelegrín, P.
AU  - Colobran, R.
AU  - Vicente, A.
AU  - Arostegui, J. I.
PY  - 2020
SN  - 0271-9142
UR  - http://hdl.handle.net/20.500.11940/16751
AB  - Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded their phenotypes toward more...
KW  - Cytokines
KW  - Inflammasomes
KW  - Phospholipase C gamma
KW  - Adolescent
KW  - Pedigree
KW  - Phenotype
KW  - Genetic Predisposition to Disease
KW  - Autoimmunity
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Genetic Association Studies
KW  - Agammaglobulinemia
KW  - Structure-Activity Relationship
KW  - Caspase 1
KW  - Hereditary Autoinflammatory Diseases
TI  - Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
DO  - 10.1007/s10875-020-00794-7
KW  - CHUVI
VL  - 40
ER  -