Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumour necrosis factor inhibitor adalimumab

Clinical and Experimental Rheumatology

Volumn 30, Issue 3, 2012, Pages 452-

  Lee, H ^a   Park, S H ^a   Kim, S K ^a   Choe, Jung Yoon ^a   Park, J S ^b  

^a Arthritis and Autoimmunity Research Center   (South Korea)

^b Catholic University of Daegu   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADALIMUMAB; CYCLOSPORIN; IMMUNOSUPPRESSIVE AGENT; INTERLEUKIN 1BETA; ISOTRETINOIN; METHYLPREDNISOLONE; PREDNISOLONE; STEROID; TUMOR NECROSIS FACTOR ALPHA;

ADULT; BACTERIAL ARTHRITIS; CASE REPORT; CD2BP1 GENE; DEBRIDEMENT; DISEASE EXACERBATION; DRUG DOSE REDUCTION; EXON; GENE; GENE MUTATION; HUMAN; JOINT SWELLING; KNEE ARTHRITIS; KNEE PAIN; LETTER; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PAPA SYNDROME; PRIORITY JOURNAL;

ACNE VULGARIS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ANTIBODIES, MONOCLONAL, HUMANIZED; ANTIRHEUMATIC AGENTS; ARTHRITIS, INFECTIOUS; CYTOSKELETAL PROTEINS; HUMANS; MALE; POINT MUTATION; PYODERMA GANGRENOSUM; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84864774809     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. WISE CA, GILLUM JD, SEIDMAN CE et al.: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 2002; 11: 961-9.
2. SMITH EJ, ALLANTAZ F, BENNETT L et al.: Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics 2010; 11: 519-27.
3. CORTIS E, DE BENEDETTI F, INSALACO A et al.: Abnormal production of tumor necrosis factor (TNF)-alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]. J Pediatr 2004; 145: 851-5.
4. BRENNER M, RUZICKA T, PLEWIG G, THOMAS P, HERZER P: Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. Br J Dermatol 2009; 161: 1199-201.
5. STICHWEH DS, PUNARO M, PASCUAL V: Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatr Dermatol 2005; 22: 262-5.