Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.
Kanazawa
Nobuo
N
Matsushima
Satoko
S
Kambe
Naotomo
N
Tachibana
Takao
T
Nagai
Sonoko
S
Miyachi
Yoshiki
Y
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D006099:Granuloma / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D012507:Sarcoidosis / Q000235:genetics*; D013577:Syndrome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein