Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature.
Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding for the nucleotide-binding domain region of the NOD2/CARD15 gene with subsequent dysregulation of the inflammatory response and formation of noncaseous granulomas. They include Blau syndrome (BS) and early-onset sarcoidosis (EOS); both are clinically and genetically indistinguishable between them and they are the familial (autosomal dominantly inherited) and sporadic forms of the same disease, respectively. We describe a case of EOS, misdiagnosed for 30 years such as "juvenile rheumatoid arthritis" before and "classic sarcoidosis" later. In our patient, we found a new de novo mutation (E383G) in NOD2 that has been reported only in a family of Japanese patients with BS. After long-term follow-up (42 months), infliximab maintained good efficacy and safety without any sign of disease relapse and side effects.
Department of Pediatrics, Antonio Perrino Hospital, Brindisi, Italy, latorre_francesco@virgilio.it.
Francesco
F
La Torre
Giovanni
G
Lapadula
Luca
L
Cantarini
Orso Maria
OM
Lucherini
Florenzo
F
Iannone
D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use*; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D001168:Arthritis; D005260:Female; D006801:Humans; D000069285:Infliximab; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D012507:Sarcoidosis / Q000188:drug therapy* / Q000235:genetics*; D013585:Synovitis; D016896:Treatment Outcome; D014605:Uveitis; D056660:Hereditary Autoinflammatory Diseases
D000894:Anti-Inflammatory Agents, Non-Steroidal; D000911:Antibodies, Monoclonal; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D000069285:Infliximab