Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.
Lymphadenopathy in children for which no infectious or malignant cause can be ascertained constitutes a challenging diagnostic dilemma. Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma. In 1999, investigators at the National Institutes of Health (NIH) suggested criteria to establish the diagnosis of ALPS. Since then, with approximately 500 patients with ALPS studied worldwide, significant advances in our understanding of the disease have prompted the need for revisions to the existing diagnostic criteria and classification scheme. The rationale and recommendations outlined here stem from an international workshop held at NIH on September 21 and 22, 2009, attended by investigators from the United States, Europe, and Australia engaged in clinical and basic science research on ALPS and related disorders. It is hoped that harmonizing the diagnosis and classification of ALPS will foster collaborative research and better understanding of the pathogenesis of autoimmune cytopenias and B-cell lymphomas.
Oliveira
Joao B
JB
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. oliveirajb@cc.nih.gov
Bleesing
Jack J
JJ
Dianzani
Umberto
U
Fleisher
Thomas A
TA
Jaffe
Elaine S
ES
Lenardo
Michael J
MJ
Rieux-Laucat
Frederic
F
Siegel
Richard M
RM
Su
Helen C
HC
Teachey
David T
DT
Rao
V Koneti
VK
D056735:Autoimmune Lymphoproliferative Syndrome / Q000145:classification / Q000175:diagnosis*; D002648:Child; D006801:Humans; D014481:United States