A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1- associated autoinflammation with arthritis and dyskeratosis)

Annals of the Rheumatic Diseases

Volumn 76, Issue 7, 2017, Pages 1191-1198

  Grandemange, Sylvie ^a,b   Sanchez, Elodie ^b,c   Louis Plence, Pascale ^b,d   Tran Mau Them, Frédéric ^b,c   Bessis, Didier ^b,d   Coubes, Christine ^c   Frouin, Eric ^e   Seyger, Marieke ^f   Girard, Manon ^c   Puechberty, Jacques ^c   Costes, Valérie ^d,e   Rodière, Michel ^c   Carbasse, Aurélia ^c   Jeziorski, Eric ^c,d   Portales, Pierre ^a   Sarrabay, Guillaume ^a,b,d   Mondain, Michel ^a,d   Jorgensen, Christian ^b,d,g   Apparailly, Florence ^b,d,g   Hoppenreijs, Esther ^f   Touitou, Isabelle ^a,b,d   Geneviève, David ^b,c,d   more..

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT ELOI   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d UNIV MONTPELLIER   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g LAPEYRONIE HOSPITAL   (France)

Author keywords

Arthritis; Fever Syndromes; Inflammation; Juvenile Idiopathic Arthritis

Indexed keywords

ANAKINRA; ANTINUCLEAR ANTIBODY; C REACTIVE PROTEIN; CANAKINUMAB; CORTICOSTEROID; ETANERCEPT; ETRETIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; INTERLEUKIN 18; INTERLEUKIN 1BETA CONVERTING ENZYME; ISOTRETINOIN; M PROTEIN; METHOTREXATE; PARIETAL CELL ANTIBODY; RETINOL; APOPTOSIS REGULATORY PROTEIN; INTERLEUKIN 18 PROTEIN, HUMAN; NLRP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ALGERIAN; ARTHRITIS; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOINFLAMMATORY DISEASE; B LYMPHOCYTE; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DUTCHMAN; DYSKERATOSIS; FEMALE; FIRST COUSIN; GENE; GENE MUTATION; GENETIC SCREENING; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOPHENOTYPING; INFECTION; KNEE ARTHRITIS; MALE; NEXT GENERATION SEQUENCING; NLRP1 ASSOCIATED AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; NLRP1 GENE; PRIORITY JOURNAL; RECURRENT FEVER; RETINOL DEFICIENCY; SCHOOL CHILD; SKIN BIOPSY; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; ALGERIA; BLACK PERSON; CAUCASIAN; COMPLICATION; CONSANGUINITY; GENETICS; HEREDITARY PERIODIC FEVER; HOMOZYGOTE; IMMUNOLOGY; JUVENILE RHEUMATOID ARTHRITIS; MUTATION; NETHERLANDS; PRE B LYMPHOCYTE; SKIN DISEASE; SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; AFRICAN CONTINENTAL ANCESTRY GROUP; ALGERIA; APOPTOSIS REGULATORY PROTEINS; ARTHRITIS, JUVENILE; AUTOIMMUNE DISEASES; B-LYMPHOCYTES; CASPASE 1; CHILD; CONSANGUINITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEREDITARY AUTOINFLAMMATORY DISEASES; HOMOZYGOTE; HUMANS; INTERLEUKIN-18; MALE; MUTATION; NETHERLANDS; PRECURSOR CELLS, B-LYMPHOID; SKIN DISEASES; SYNDROME;

EID: 85006995122     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2016-210021     Document Type: Article

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