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

Bradly M. Bauman, Batsukh Dorjbal, Stefania Pittaluga, Yu Zhang, Julie E. Niemela, Jennifer L. Stoddard, Sergio D. Rosenzweig, Ronald Anderson, Gregory M.T. Guilcher, Iwona Auer, Renee Perrier, Martin Campbell, Samarjeet K. Bhandal, Camille Alba, Gauthaman Sukumar, Clifton L. Dalgard, Magdalena Schelotto, Nicola A.M. Wright, Helen C. Su, Andrew L. Snow*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number109732
JournalClinical Immunology
StatePublished - Oct 2023
Externally publishedYes


  • B cell lymphocytosis
  • CARD11
  • Lobular panniculitis


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