Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.
Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelomonocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD).
Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. m.takagi.ped@tmd.ac.jp
Masatoshi
M
Takagi
Kunihiro
K
Shinoda
Jinhua
J
Piao
Noriko
N
Mitsuiki
Mari
M
Takagi
Kazuyuki
K
Matsuda
Hideki
H
Muramatsu
Sayoko
S
Doisaki
Masayuki
M
Nagasawa
Tomohiro
T
Morio
Yoshihito
Y
Kasahara
Kenichi
K
Koike
Seiji
S
Kojima
Akira
A
Takao
Shuki
S
Mizutani
D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D056735:Autoimmune Lymphoproliferative Syndrome / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins / Q000235:genetics*
C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins