Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15.
This is the first report of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates the continued evolution of the phenotype of a disease initially conceived as a familial inflammatory granulomatous disease limited to the triad of synovitis, dermatitis, and uveitis.
Becker
Mara L
ML
Section of Rheumatology, Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, and Oregon Health and Science University, Portland, USA. mlbecker@cmh.edu
Martin
Tammy M
TM
Doyle
Trudy M
TM
Rosé
Carlos D
CD
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001171:Arthritis, Juvenile / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D006099:Granuloma / Q000235:genetics / Q000473:pathology; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics* / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D008199:Lymphadenitis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D013577:Syndrome; D013585:Synovitis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome; D014606:Uveitis, Anterior / Q000235:genetics / Q000473:pathology
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein