scholarly journals Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report

2016 ◽  
Vol 4 (3) ◽  
pp. 123-126
Author(s):  
Yazan S. Mousa
Keyword(s):  
T Cells ◽  
Double Negative ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Laboratory Marker ◽  
Leukocyte Apoptosis ◽  
Increased Risk ◽  
Lymphoproliferative Syndrome ◽  
Double Negative T Cells ◽  
Purpuric Rash ◽  
Probable Diagnosis

Background: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the blood, estimated at around 500 cases worldwide. It is characterized by a dysregulation of T-cells in the immune system, and is caused by a defect in the process that mediates leukocyte apoptosis. This may result in an increased risk of lymphoma and autoimmune diseases. Case: The author reports a case of an 11-year-old male who had been followed up since three years of age for recurrent cytopenias, occurring with intermittent breakouts of purpuric rash, nosebleeds, and prolonged infections. Conclusion: A probable diagnosis was made through criteria based on the First International ALPS workshop of 2009. This includes the presence of circulating double-negative T cells, considered the laboratory marker unique for ALPS. The mainstay of treatment was prednisone, given at doses varying in proportion to the severity of immunocytopenia. osis.

scholarly journals Autoimmune Lymphoproliferative Syndrome: An Overview

2019 ◽  
Vol 144 (2) ◽  
pp. 245-251
Author(s):  
Daniel R. Matson ◽  
David T. Yang
Keyword(s):  
T Cells ◽  
Double Negative ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Test Results ◽  
Pathologic Feature ◽  
Laboratory Test Results ◽  
Inherited Immunodeficiency ◽  
Fas Signaling ◽  
Lymphoproliferative Syndrome ◽  
Double Negative T Cells

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited nonmalignant lymphoproliferative disorder characterized by heterozygous mutations within the first apoptosis signal receptor (FAS) signaling pathway. Defects in FAS-mediated apoptosis cause an expansion and accumulation of autoreactive CD4− and CD8− (double-negative) T cells, leading to cytopenias, splenomegaly, lymphadenopathy, autoimmune disorders, and a greatly increased lifetime risk of lymphoma. The differential diagnosis of ALPS includes infection, other inherited immunodeficiency disorders, primary and secondary autoimmune syndromes, and lymphoma. The most consistent pathologic feature is a florid paracortical expansion of double-negative T cells in lymph nodes. A presumptive clinical diagnosis can be made from symptoms and a constellation of laboratory test results. However, a definitive diagnosis requires ancillary testing and enables disease subclassification. Recognition of ALPS is critical, as treatment with immunosuppressive therapies can effectively reduce or ameliorate symptoms for most patients.

scholarly journals FAS-L, IL-10, and double-negative CD4−CD8− TCR α/β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Blood ◽  
2009 ◽  
Vol 113 (13) ◽  
pp. 3027-3030 ◽  
Author(s):  
Aude Magerus-Chatinet ◽  
Marie-Claude Stolzenberg ◽  
Maria S. Loffredo ◽  
Bénédicte Neven ◽  
Catherine Schaffner ◽  
...  
Keyword(s):  
T Cells ◽  
Cell Detection ◽  
Double Negative ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Loss Of Function ◽  
Functional Defect ◽  
Lymphoproliferative Syndrome ◽  
Fas L ◽  
Induced Apoptosis

Abstract Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRαβ+ CD4−CD8− T cells (DNT cells), and autoimmunity. Previously, DNT cell detection and a functional defect of T cells in a FAS-induced apoptosis test in vitro had been used for ALPS diagnosis. However, a functional defect can also be detected in mutation-positive relatives (MPRs) who remain free of any ALPS-related disease. In contrast, lymphocytes from patients carrying a somatic mutation of FAS exhibit normal sensitivity to FAS-induced apoptosis in vitro. We assessed the soluble FAS-L concentration in the plasma of ALPS patients carrying FAS mutations. Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS.

336 DOUBLE NEGATIVE T CELLS IN ANGIOTENSIN II DEPENDENT HYPERTENSION

2011 ◽  
Vol 12 (1) ◽  
pp. 72
Author(s):  
T. Mikołajczyk ◽  
R. Nosalski ◽  
A. Sagan ◽  
D. Skiba ◽  
D. Ludew ◽  
...  
Keyword(s):  
T Cells ◽  
Angiotensin Ii ◽  
Double Negative ◽  
Double Negative T Cells

CD4+ T-Cell Converted Double Negative T-Cells Suppress B-Cells Proliferation and IGG Production in Mice.

2014 ◽  
Vol 98 ◽  
pp. 391
Author(s):  
W. Li ◽  
X. Zhao ◽  
Y. Tian ◽  
W. Shi ◽  
X. Li ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
B Cells ◽  
Cd4 T Cell ◽  
Double Negative ◽  
Double Negative T Cells
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