Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.
Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
Antonio
A
Vitale
Donato
D
Rigante
Maria Cristina
MC
Maggio
Giacomo
G
Emmi
Micol
M
Romano
Elena
E
Silvestri
Orso Maria
OM
Lucherini
Lorenzo
L
Emmi
Valeria
V
Gerloni
Luca
L
Cantarini
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016896:Treatment Outcome
D007166:Immunosuppressive Agents; D047908:Intracellular Signaling Peptides and Proteins; C476731:NLRP12 protein, human