Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.
Blau syndrome (MIM 186580) is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Missense mutations in CARD15, usually on codon 334, have been described in several families with Blau syndrome. The disorder has been described as familial; here we report the first evidence of a sporadic case of Blau syndrome in a 19 year-old man with two CARD15 mutations (R334Q and G908R). His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease. An extensive radiologic, histologic and laboratory evaluation and a life-long clinical follow-up is available for this patient who presented skin, joint, epididimal and eye involvement.
Priori
Roberta
R
Cattedra di Reumatologia, Dipartimento di Terapia Medica Applicata, Università La Sapienza, Rome, Italy. rob.pri@libero.it
Bombardieri
Michele
M
Spinelli
Francesca Romana
FR
Merlin
Françoise
F
Miceli-Richard
Corinne
C
La Cava
Maurizio
M
Scavalli
Antonio Sili
AS
Guerrisi
Raffaele
R
Hugot
Jean-Pierre
JP
Valesini
Guido
G
D000328:Adult; D001168:Arthritis / Q000235:genetics* / Q000473:pathology*; D005076:Exanthema / Q000209:etiology / Q000235:genetics / Q000473:pathology; D005500:Follow-Up Studies; D006099:Granuloma / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D053473:Nod2 Signaling Adaptor Protein; D010375:Pedigree; D010507:Periodicity; D013577:Syndrome; D014606:Uveitis, Anterior / Q000235:genetics* / Q000473:pathology*
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein