Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 255(2023) vom: 01. Okt., Seite 109732
1. Verfasser: Bauman, Bradly M (VerfasserIn)
Weitere Verfasser: Dorjbal, Batsukh, Pittaluga, Stefania, Zhang, Yu, Niemela, Julie E, Stoddard, Jennifer L, Rosenzweig, Sergio D, Anderson, Ronald, Guilcher, Gregory M T, Auer, Iwona, Perrier, Renee, Campbell, Martin, Bhandal, Samarjeet K, Alba, Camille, Sukumar, Gauthaman, Dalgard, Clifton L, Schelotto, Magdalena, Wright, Nicola A M, Su, Helen C, Snow, Andrew L
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2023
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't B cell lymphocytosis BENTA CARD11 Lobular panniculitis SPTCL
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520 |a Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8+ T cells, the genetic underpinnings of which remain incompletely understood. Here we report two unrelated patients with B cell Expansion with NF-κB and T cell Anergy (BENTA) disease and a novel presentation of SPTCL. Patient 1 presented early in life with recurrent infections and B cell lymphocytosis, linked to a novel gain-of-function (GOF) CARD11 mutation (p.Lys238del). He developed SPTCL-like lesions and membranoproliferative glomerulonephritis by age 2, treated successfully with cyclosporine. Patient 2 presented at 13 months with splenomegaly, lymphadenopathy, and SPTCL with evidence of hemophagocytic lymphohistiocytosis. Genetic analysis revealed two in cis germline GOF CARD11 variants (p.Glu121Asp/p.Gly126Ser). Autologous bone marrow transplant resulted in SPTCL remission despite persistent B cell lymphocytosis. These cases illuminate an unusual pathological manifestation for BENTA disease, suggesting that CARD11 GOF mutations can manifest in cutaneous CD4+and CD8+ T cell malignancies 
650 4 |a Case Reports 
650 4 |a Journal Article 
650 4 |a Research Support, N.I.H., Intramural 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a B cell lymphocytosis 
650 4 |a BENTA 
650 4 |a CARD11 
650 4 |a Lobular panniculitis 
650 4 |a SPTCL 
700 1 |a Dorjbal, Batsukh  |e verfasserin  |4 aut 
700 1 |a Pittaluga, Stefania  |e verfasserin  |4 aut 
700 1 |a Zhang, Yu  |e verfasserin  |4 aut 
700 1 |a Niemela, Julie E  |e verfasserin  |4 aut 
700 1 |a Stoddard, Jennifer L  |e verfasserin  |4 aut 
700 1 |a Rosenzweig, Sergio D  |e verfasserin  |4 aut 
700 1 |a Anderson, Ronald  |e verfasserin  |4 aut 
700 1 |a Guilcher, Gregory M T  |e verfasserin  |4 aut 
700 1 |a Auer, Iwona  |e verfasserin  |4 aut 
700 1 |a Perrier, Renee  |e verfasserin  |4 aut 
700 1 |a Campbell, Martin  |e verfasserin  |4 aut 
700 1 |a Bhandal, Samarjeet K  |e verfasserin  |4 aut 
700 1 |a Alba, Camille  |e verfasserin  |4 aut 
700 1 |a Sukumar, Gauthaman  |e verfasserin  |4 aut 
700 1 |a Dalgard, Clifton L  |e verfasserin  |4 aut 
700 1 |a Schelotto, Magdalena  |e verfasserin  |4 aut 
700 1 |a Wright, Nicola A M  |e verfasserin  |4 aut 
700 1 |a Su, Helen C  |e verfasserin  |4 aut 
700 1 |a Snow, Andrew L  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 255(2023) vom: 01. Okt., Seite 109732  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
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