Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: An Italian case series

Clinical and Experimental Rheumatology

Volumn 31, Issue SUPPL.77, 2013, Pages

  Vitale, A ^a   Rigante, D ^b   Maggio, M C ^c   Emmi, G ^a   Romano, M ^e   Silvestri, E ^d   Lucherini, O M ^a   Emmi, L ^d   Gerloni, V ^e   Cantarini, Luca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIHISTAMINIC AGENT; COLCHICINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; INTERLEUKIN 6; INTERLEUKIN 6 ANTIBODY; METHYLPREDNISOLONE; NLRP12 PROTEIN; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; REGULATOR PROTEIN; TUMOR NECROSIS FACTOR ANTIBODY; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADOLESCENT; ADULT; APHTHOUS STOMATITIS; ARTHRALGIA; ARTHRITIS; AUTOINFLAMMATORY DISEASE; CAUCASIAN; CHILD; CINCA SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONJUNCTIVITIS; CYTOKINE RELEASE; DIARRHEA; DISEASE ASSOCIATION; DRUG RESPONSE; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FATIGUE; FEMALE; FEVER; GENETIC VARIABILITY; HEADACHE; HUMAN; ITALY; LETTER; LYMPHADENOPATHY; MALE; MYALGIA; NLRP12 GENE; NLRP3 GENE; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RASH; SYMPTOM; THORAX PAIN;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; TREATMENT OUTCOME;

EID: 84884928960     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. JÉRU I, DUQUESNOY P, FERNANDES-ALNEMRI T et al.: Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci USA 2008; 105: 1614-9.
2. CANTARINI L, LUCHERINI OM, FREDIANI B et al.: Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. Int J Immunopathol Pharmacol 2011; 24: 827-36.
3. RIGANTE D: The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmun Rev 2012; 11: 348-56.
4. JÉRU I, LE BORGNE G, COCHET E et al.: Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum 2011; 63: 1459-64.
5. JÉRU I, HENTGEN V, NORMAND S et al.: Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis Rheum 2011; 63: 2142-8.
6. WILLIAMS KL, LICH JD, DUNCAN JA et al.: The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem 2005; 280: 39914-24.
7. WILLIAMS KL, TAXMAN DJ, LINHOFF MW, REED W, TING JP: Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes. J Immunol 2003; 170: 5354-8.
8. VITALE A, LUCHERINI OM, GALEAZZI M, FREDIANI B, CANTARINI L: Long term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clin Exp Rheumatol 2012; 30: 943-6.
9. RAVET N, ROUAGHE S, DODÉ C et al.: Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006; 65: 1158-62.
10. TER HAAR N, LACHMANN H, OZEN S et al.: Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013; 72: 678-85.