scholarly journals A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease

2018 ◽  
Vol 2 (21) ◽  
pp. 2959-2963 ◽  
Author(s):  
Turner S. Baker ◽  
Kristyne J. Gambino ◽  
Lawrence Schriefer ◽  
Jung-Yeon Lim ◽  
Karyn Meltz Steinberg ◽  
...  
Keyword(s):  
Castleman Disease ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Lymphocyte Apoptosis ◽  
Variable Expressivity ◽  
Multicentric Castleman Disease ◽  
Pathological Mechanism ◽  
Key Points ◽  
Lymphoproliferative Syndrome

Key Points FAS can be mutated in individuals diagnosed with unicentric and idiopathic multicentric Castleman disease. Defective lymphocyte apoptosis may be a pathological mechanism shared between Castleman disease and autoimmune lymphoproliferative syndrome.

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

1998 ◽  
Vol 133 (5) ◽  
pp. 629-633 ◽  
Author(s):  
Anthony J. Infante ◽  
Howard A. Britton ◽  
Thomas DeNapoli ◽  
Lindsay A. Middelton ◽  
Michael J. Lenardo ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Lymphocyte Apoptosis ◽  
Lymphoproliferative Syndrome

scholarly journals Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Blood ◽  
2014 ◽  
Vol 123 (13) ◽  
pp. 1989-1999 ◽  
Author(s):  
Susan Price ◽  
Pamela A. Shaw ◽  
Amy Seitz ◽  
Gyan Joshi ◽  
Joie Davis ◽  
...  
Keyword(s):  
Natural History ◽  
Clinical Manifestation ◽  
Gene Mutations ◽  
Morbidity And Mortality ◽  
Carrier Rate ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Key Points ◽  
History Of ◽  
High Carrier ◽  
Lymphoproliferative Syndrome

Key Points Less than 60% of individuals who inherit a FAS mutation have a clinical manifestation of ALPS, implying a high carrier rate. Major causes of morbidity and mortality in ALPS patients are sepsis following splenectomy and development of lymphoma.

scholarly journals Autoimmune hypoglycemia expands the biological spectrum of HHV8+ multicentric Castleman disease

2021 ◽  
Vol 5 (7) ◽  
pp. 1848-1852
Author(s):  
Pierre Arnautou ◽  
Martine Auclair ◽  
Soraya Fellahi ◽  
Clara Bouché ◽  
Claire Fieschi ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Effective Treatment ◽  
Signaling Pathway ◽  
Insulin Signaling ◽  
Rare Complication ◽  
Castleman Disease ◽  
Clinical Spectrum ◽  
Multicentric Castleman Disease ◽  
Key Points ◽  
Biological Spectrum

Key Points Autoimmune hypoglycemia belongs to the clinical spectrum of HHV8+ MCD and rituximab is an effective treatment of this condition. This rare complication is related to autoantibodies directed toward the insulin receptor and activating the insulin signaling pathway.

scholarly journals Human and viral interleukin-6 and other cytokines in Kaposi sarcoma herpesvirus-associated multicentric Castleman disease

Blood ◽  
2013 ◽  
Vol 122 (26) ◽  
pp. 4189-4198 ◽  
Author(s):  
Mark N. Polizzotto ◽  
Thomas S. Uldrick ◽  
Victoria Wang ◽  
Karen Aleman ◽  
Kathleen M. Wyvill ◽  
...  
Keyword(s):  
Interleukin 6 ◽  
Kaposi Sarcoma ◽  
Castleman Disease ◽  
Multicentric Castleman Disease ◽  
Key Points

Key PointsHuman IL-6 and a viral IL-6 homolog encoded by KSHV/HHV8 can independently or together lead to flares of KSHV-associated MCD. KSHV-MCD disease flares were more severe where both human and viral IL-6 were elevated, suggesting they jointly contribute to severity.

scholarly journals iNKT and memory B-cell alterations in HHV-8 multicentric Castleman disease

Blood ◽  
2017 ◽  
Vol 129 (7) ◽  
pp. 855-865 ◽  
Author(s):  
Zineb Sbihi ◽  
Antoine Dossier ◽  
David Boutboul ◽  
Lionel Galicier ◽  
Christophe Parizot ◽  
...  
Keyword(s):  
B Cells ◽  
B Cell ◽  
Castleman Disease ◽  
Memory B Cells ◽  
Memory B Cell ◽  
Multicentric Castleman Disease ◽  
Key Points ◽  
Cell Alterations

Key Points HHV-8 MCD is associated with a decrease of iNKT and memory B cells. iNKT decrease contributes to B-cell abnormalities in coculture experiments.

scholarly journals Rituximab plus liposomal doxorubicin in HIV-infected patients with KSHV-associated multicentric Castleman disease

Blood ◽  
2014 ◽  
Vol 124 (24) ◽  
pp. 3544-3552 ◽  
Author(s):  
Thomas S. Uldrick ◽  
Mark N. Polizzotto ◽  
Karen Aleman ◽  
Kathleen M. Wyvill ◽  
Vickie Marshall ◽  
...  
Keyword(s):  
Liposomal Doxorubicin ◽  
Kaposi Sarcoma ◽  
Castleman Disease ◽  
Multicentric Castleman Disease ◽  
Key Points ◽  
Initial Regimen

Key PointsRituximab plus liposomal doxorubicin is active and tolerated in patients with symptomatic KSHV-associated multicentric Castleman disease. This is a safe and effective initial regimen for concurrent symptomatic KSHV-associated multicentric Castleman disease and Kaposi sarcoma.

scholarly journals Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

2017 ◽  
Vol 1 (15) ◽  
pp. 1101-1106 ◽  
Author(s):  
Stefano Vavassori ◽  
Jacob D. Galson ◽  
Johannes Trück ◽  
Anke van den Berg ◽  
Rienk Y. J. Tamminga ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
T Cells ◽  
T Cell ◽  
Cell Expansion ◽  
T Cell Proliferation ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Key Points ◽  
Lymphoproliferative Syndrome ◽  
T Cell Expansion

Key Points FAS-dependent apoptosis in Vδ1 T cells makes the latter possible culprits for the lymphadenopathy observed in patients with FAS mutations. Rapamycin and methylprednisolone resistance should prompt clinicians to look for Vδ1 T cell proliferation in ALPS-FAS patients.

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