Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease
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...
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| Published in: | Clinical immunology (Orlando, Fla.) Vol. 255; p. 109732 |
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| Abstract | 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.
•We describe 2 patients with BENTA disease and a novel presentation of SPTCL/ALLP.•Though unusual, SPTCL noted in BENTA may require aggressive treatment if severe.•CARD11 GOF variants can occur in both CD4+ and CD8+ T cell dyscrasias. |
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| AbstractList | 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.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. 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. •We describe 2 patients with BENTA disease and a novel presentation of SPTCL/ALLP.•Though unusual, SPTCL noted in BENTA may require aggressive treatment if severe.•CARD11 GOF variants can occur in both CD4+ and CD8+ T cell dyscrasias. 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. 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. |
| ArticleNumber | 109732 |
| Author | Dalgard, Clifton L. Rosenzweig, Sergio D. Schelotto, Magdalena Pittaluga, Stefania Zhang, Yu Campbell, Martin Niemela, Julie E. Su, Helen C. Auer, Iwona Bhandal, Samarjeet K. Snow, Andrew L. Alba, Camille Sukumar, Gauthaman Bauman, Bradly M. Dorjbal, Batsukh Stoddard, Jennifer L. Guilcher, Gregory M.T. Anderson, Ronald Perrier, Renee Wright, Nicola A.M. |
| AuthorAffiliation | g Alberta Precision Laboratories, University of Calgary, Calgary, AB, Canada k The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA m Department of Pediatric Hematology and Oncology, Fundación Pérez Scremini, Hospital Pereira Rossell, Montevideo, Uruguay a Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA l Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA c Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA i Royal Children’s Hospital, Melbourne, Australia d NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD, USA e Immunology Service, Department of Laboratory Medicine, National Institutes of Healt |
| AuthorAffiliation_xml | – name: e Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA – name: j Department of Radiology, Alberta Children’s Hospital, Calgary, AB, Canada – name: b Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA – name: c Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA – name: g Alberta Precision Laboratories, University of Calgary, Calgary, AB, Canada – name: h Department of Medical Genetics, University of Calgary, Calgary, AB, Canada – name: k The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA – name: l Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA – name: m Department of Pediatric Hematology and Oncology, Fundación Pérez Scremini, Hospital Pereira Rossell, Montevideo, Uruguay – name: d NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD, USA – name: a Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA – name: f Department of Pediatrics, Alberta Children’s Hospital, University of Calgary, Calgary, AB, Canada – name: i Royal Children’s Hospital, Melbourne, Australia |
| Author_xml | – sequence: 1 givenname: Bradly M. surname: Bauman fullname: Bauman, Bradly M. organization: Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA – sequence: 2 givenname: Batsukh surname: Dorjbal fullname: Dorjbal, Batsukh organization: Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA – sequence: 3 givenname: Stefania surname: Pittaluga fullname: Pittaluga, Stefania organization: Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 4 givenname: Yu surname: Zhang fullname: Zhang, Yu organization: Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA – sequence: 5 givenname: Julie E. surname: Niemela fullname: Niemela, Julie E. organization: Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA – sequence: 6 givenname: Jennifer L. surname: Stoddard fullname: Stoddard, Jennifer L. organization: Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA – sequence: 7 givenname: Sergio D. surname: Rosenzweig fullname: Rosenzweig, Sergio D. organization: Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA – sequence: 8 givenname: Ronald surname: Anderson fullname: Anderson, Ronald organization: Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada – sequence: 9 givenname: Gregory M.T. surname: Guilcher fullname: Guilcher, Gregory M.T. organization: Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada – sequence: 10 givenname: Iwona surname: Auer fullname: Auer, Iwona organization: Alberta Precision Laboratories, University of Calgary, Calgary, AB, Canada – sequence: 11 givenname: Renee surname: Perrier fullname: Perrier, Renee organization: Department of Medical Genetics, University of Calgary, Calgary, AB, Canada – sequence: 12 givenname: Martin surname: Campbell fullname: Campbell, Martin organization: Royal Children's Hospital, Melbourne, Australia – sequence: 13 givenname: Samarjeet K. surname: Bhandal fullname: Bhandal, Samarjeet K. organization: Department of Radiology, Alberta Children's Hospital, Calgary, AB, Canada – sequence: 14 givenname: Camille surname: Alba fullname: Alba, Camille organization: The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA – sequence: 15 givenname: Gauthaman surname: Sukumar fullname: Sukumar, Gauthaman organization: The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA – sequence: 16 givenname: Clifton L. surname: Dalgard fullname: Dalgard, Clifton L. organization: The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA – sequence: 17 givenname: Magdalena surname: Schelotto fullname: Schelotto, Magdalena organization: Department of Pediatric Hematology and Oncology, Fundación Pérez Scremini, Hospital Pereira Rossell, Montevideo, Uruguay – sequence: 18 givenname: Nicola A.M. surname: Wright fullname: Wright, Nicola A.M. organization: Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada – sequence: 19 givenname: Helen C. surname: Su fullname: Su, Helen C. organization: Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA – sequence: 20 givenname: Andrew L. surname: Snow fullname: Snow, Andrew L. email: andrew.snow@usuhs.edu organization: Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37562721$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.jaci.2003.07.003 10.1080/10428194.2021.1901098 10.3389/fimmu.2018.02078 10.1182/bloodadvances.2021004562 10.1111/ajd.13684 10.1038/s41588-018-0251-4 10.1002/pbc.28302 10.1182/bloodadvances.2018028340 10.1016/j.smim.2023.101761 10.1038/ng.3442 10.1084/jem.20120831 10.1182/blood-2007-04-087288 10.1038/ng.3415 10.5858/133.2.303 10.1038/ng.3898 10.1111/ejh.13540 |
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| Keywords | TCR B cell lymphocytosis OS HLH Lobular panniculitis G-CSF ALLP SPTCL ATL BENTA TIM-3 HSCT CARD11 GOF |
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| References | da Silva Almeida, Abate, Khiabanian, Martinez-Escala, Guitart, Tensen (bb0050) 2015; 47 Kataoka, Nagata, Kitanaka, Shiraishi, Shimamura, Yasunaga (bb0055) 2015; 47 Snow, Xiao, Stinson, Lu, Chaigne-Delalande, Zheng (bb0065) 2012; 209 Uchida, Yoshimitsu, Hachiman, Kusano, Arima, Shima (bb0085) 2021; 106 Machan, Rodriguez, Alonso-Alonso, Manso, Perez-Buira, Borregon (bb0045) 2021; 62 Shearer, Rosenblatt, Gelman, Oyomopito, Plaeger, Stiehm (bb0095) 2003; 112 Frederiks, Spagnolo, Ramachandran, Brand (bb0015) 2021; 62 Aluri, Cooper (bb0090) 2023; 67 Ni, Sarantopoulos, Chiu (bb0080) 2020; 12 Koh, Jang, Mun, Lee, Cha, Oh (bb0025) 2021; 5 Parveen, Thompson (bb0005) 2009; 133 Willemze, Jansen, Cerroni, Berti, Santucci, Assaf (bb0010) 2008; 111 Wegehaupt, Gross, Wehr, Marks, Schmitt-Graeff, Uhl (bb0040) 2020; 67 Lu, Bauman, Arjunaraja, Dorjbal, Milner, Snow (bb0060) 2018; 9 Sonigo, Battistella, Beylot-Barry, Ingen-Housz-Oro, Franck, Barete (bb0035) 2020; 135 He, Kwatra, Kazi, Sweren (bb0075) 2016; 2016 Gayden, Sepulveda, Khuong-Quang, Pratt, Valera, Garrigue (bb0020) 2018; 50 Polprasert, Takeuchi, Kakiuchi, Yoshida, Assanasen, Sitthi (bb0030) 2019; 3 Ma, Stinson, Zhang, Abbott, Weinreich, Hauk (bb0070) 2017; 49 Wegehaupt (10.1016/j.clim.2023.109732_bb0040) 2020; 67 Lu (10.1016/j.clim.2023.109732_bb0060) 2018; 9 Uchida (10.1016/j.clim.2023.109732_bb0085) 2021; 106 Ni (10.1016/j.clim.2023.109732_bb0080) 2020; 12 Koh (10.1016/j.clim.2023.109732_bb0025) 2021; 5 Gayden (10.1016/j.clim.2023.109732_bb0020) 2018; 50 Machan (10.1016/j.clim.2023.109732_bb0045) 2021; 62 Sonigo (10.1016/j.clim.2023.109732_bb0035) 2020; 135 Kataoka (10.1016/j.clim.2023.109732_bb0055) 2015; 47 Willemze (10.1016/j.clim.2023.109732_bb0010) 2008; 111 Polprasert (10.1016/j.clim.2023.109732_bb0030) 2019; 3 Shearer (10.1016/j.clim.2023.109732_bb0095) 2003; 112 Aluri (10.1016/j.clim.2023.109732_bb0090) 2023; 67 He (10.1016/j.clim.2023.109732_bb0075) 2016; 2016 Frederiks (10.1016/j.clim.2023.109732_bb0015) 2021; 62 Snow (10.1016/j.clim.2023.109732_bb0065) 2012; 209 da Silva Almeida (10.1016/j.clim.2023.109732_bb0050) 2015; 47 Ma (10.1016/j.clim.2023.109732_bb0070) 2017; 49 Parveen (10.1016/j.clim.2023.109732_bb0005) 2009; 133 |
| References_xml | – volume: 67 year: 2020 ident: bb0040 article-title: TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis publication-title: Pediatr. Blood Cancer contributor: fullname: Uhl – volume: 135 start-page: 1058 year: 2020 end-page: 1061 ident: bb0035 article-title: HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma publication-title: Blood. contributor: fullname: Barete – volume: 12 year: 2020 ident: bb0080 article-title: A case of atypical lymphocytic lobular panniculitis publication-title: Cureus. contributor: fullname: Chiu – volume: 5 start-page: 3919 year: 2021 end-page: 3930 ident: bb0025 article-title: Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations publication-title: Blood Adv. contributor: fullname: Oh – volume: 106 start-page: 221 year: 2021 end-page: 229 ident: bb0085 article-title: RLTPR Q575E: a novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma publication-title: Eur. J. Haematol. contributor: fullname: Shima – volume: 209 start-page: 2247 year: 2012 end-page: 2261 ident: bb0065 article-title: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations publication-title: J. Exp. Med. contributor: fullname: Zheng – volume: 47 start-page: 1465 year: 2015 end-page: 1470 ident: bb0050 article-title: The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome publication-title: Nat. Genet. contributor: fullname: Tensen – volume: 3 start-page: 588 year: 2019 end-page: 595 ident: bb0030 article-title: Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma publication-title: Blood Adv. contributor: fullname: Sitthi – volume: 47 start-page: 1304 year: 2015 end-page: 1315 ident: bb0055 article-title: Integrated molecular analysis of adult T cell leukemia/lymphoma publication-title: Nat. Genet. contributor: fullname: Yasunaga – volume: 112 start-page: 973 year: 2003 end-page: 980 ident: bb0095 article-title: Lymphocyte subsets in healthy children from birth through 18 years of age: the pediatric AIDS Clinical Trials Group P1009 study publication-title: J. Allergy Clin. Immunol. contributor: fullname: Stiehm – volume: 133 start-page: 303 year: 2009 end-page: 308 ident: bb0005 article-title: Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas publication-title: Arch. Pathol. Lab. Med. contributor: fullname: Thompson – volume: 62 start-page: e576 year: 2021 end-page: e579 ident: bb0015 article-title: Subcutaneous panniculitis-like T-cell lymphoma in a 14-year-old female homozygous for HAVCR2 mutation publication-title: Australas J Dermatol. contributor: fullname: Brand – volume: 49 start-page: 1192 year: 2017 end-page: 1201 ident: bb0070 article-title: Germline hypomorphic CARD11 mutations in severe atopic disease publication-title: Nat. Genet. contributor: fullname: Hauk – volume: 62 start-page: 2130 year: 2021 end-page: 2140 ident: bb0045 article-title: Subcutaneous panniculitis-like T-cell lymphoma, lupus erythematosus profundus, and overlapping cases: molecular characterization through the study of 208 genes publication-title: Leuk. Lymphoma contributor: fullname: Borregon – volume: 2016 year: 2016 ident: bb0075 article-title: Atypical lymphocytic lobular panniculitis: an overlap condition with features of subcutaneous panniculitis-like T-cell lymphoma and lupus profundus publication-title: BMJ Case Rep. contributor: fullname: Sweren – volume: 9 start-page: 2078 year: 2018 ident: bb0060 article-title: The CBM-opathies-A rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex publication-title: Front. Immunol. contributor: fullname: Snow – volume: 67 year: 2023 ident: bb0090 article-title: Somatic mosaicism in inborn errors of immunity: current knowledge, challenges, and future perspectives publication-title: Semin. Immunol. contributor: fullname: Cooper – volume: 111 start-page: 838 year: 2008 end-page: 845 ident: bb0010 article-title: Subcutaneous panniculitis-like T-cell lymphoma: definition, classification, and prognostic factors: an EORTC cutaneous lymphoma group study of 83 cases publication-title: Blood. contributor: fullname: Assaf – volume: 50 start-page: 1650 year: 2018 end-page: 1657 ident: bb0020 article-title: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome publication-title: Nat. Genet. contributor: fullname: Garrigue – volume: 112 start-page: 973 issue: 5 year: 2003 ident: 10.1016/j.clim.2023.109732_bb0095 article-title: Lymphocyte subsets in healthy children from birth through 18 years of age: the pediatric AIDS Clinical Trials Group P1009 study publication-title: J. Allergy Clin. Immunol. doi: 10.1016/j.jaci.2003.07.003 contributor: fullname: Shearer – volume: 62 start-page: 2130 issue: 9 year: 2021 ident: 10.1016/j.clim.2023.109732_bb0045 article-title: Subcutaneous panniculitis-like T-cell lymphoma, lupus erythematosus profundus, and overlapping cases: molecular characterization through the study of 208 genes publication-title: Leuk. Lymphoma doi: 10.1080/10428194.2021.1901098 contributor: fullname: Machan – volume: 12 issue: 2 year: 2020 ident: 10.1016/j.clim.2023.109732_bb0080 article-title: A case of atypical lymphocytic lobular panniculitis publication-title: Cureus. contributor: fullname: Ni – volume: 9 start-page: 2078 year: 2018 ident: 10.1016/j.clim.2023.109732_bb0060 article-title: The CBM-opathies-A rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex publication-title: Front. Immunol. doi: 10.3389/fimmu.2018.02078 contributor: fullname: Lu – volume: 2016 year: 2016 ident: 10.1016/j.clim.2023.109732_bb0075 article-title: Atypical lymphocytic lobular panniculitis: an overlap condition with features of subcutaneous panniculitis-like T-cell lymphoma and lupus profundus publication-title: BMJ Case Rep. contributor: fullname: He – volume: 5 start-page: 3919 issue: 20 year: 2021 ident: 10.1016/j.clim.2023.109732_bb0025 article-title: Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations publication-title: Blood Adv. doi: 10.1182/bloodadvances.2021004562 contributor: fullname: Koh – volume: 62 start-page: e576 issue: 4 year: 2021 ident: 10.1016/j.clim.2023.109732_bb0015 article-title: Subcutaneous panniculitis-like T-cell lymphoma in a 14-year-old female homozygous for HAVCR2 mutation publication-title: Australas J Dermatol. doi: 10.1111/ajd.13684 contributor: fullname: Frederiks – volume: 50 start-page: 1650 issue: 12 year: 2018 ident: 10.1016/j.clim.2023.109732_bb0020 article-title: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome publication-title: Nat. Genet. doi: 10.1038/s41588-018-0251-4 contributor: fullname: Gayden – volume: 67 issue: 6 year: 2020 ident: 10.1016/j.clim.2023.109732_bb0040 article-title: TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis publication-title: Pediatr. Blood Cancer doi: 10.1002/pbc.28302 contributor: fullname: Wegehaupt – volume: 3 start-page: 588 issue: 4 year: 2019 ident: 10.1016/j.clim.2023.109732_bb0030 article-title: Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma publication-title: Blood Adv. doi: 10.1182/bloodadvances.2018028340 contributor: fullname: Polprasert – volume: 67 year: 2023 ident: 10.1016/j.clim.2023.109732_bb0090 article-title: Somatic mosaicism in inborn errors of immunity: current knowledge, challenges, and future perspectives publication-title: Semin. Immunol. doi: 10.1016/j.smim.2023.101761 contributor: fullname: Aluri – volume: 135 start-page: 1058 issue: 13 year: 2020 ident: 10.1016/j.clim.2023.109732_bb0035 article-title: HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma publication-title: Blood. contributor: fullname: Sonigo – volume: 47 start-page: 1465 issue: 12 year: 2015 ident: 10.1016/j.clim.2023.109732_bb0050 article-title: The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome publication-title: Nat. Genet. doi: 10.1038/ng.3442 contributor: fullname: da Silva Almeida – volume: 209 start-page: 2247 issue: 12 year: 2012 ident: 10.1016/j.clim.2023.109732_bb0065 article-title: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations publication-title: J. Exp. Med. doi: 10.1084/jem.20120831 contributor: fullname: Snow – volume: 111 start-page: 838 issue: 2 year: 2008 ident: 10.1016/j.clim.2023.109732_bb0010 article-title: Subcutaneous panniculitis-like T-cell lymphoma: definition, classification, and prognostic factors: an EORTC cutaneous lymphoma group study of 83 cases publication-title: Blood. doi: 10.1182/blood-2007-04-087288 contributor: fullname: Willemze – volume: 47 start-page: 1304 issue: 11 year: 2015 ident: 10.1016/j.clim.2023.109732_bb0055 article-title: Integrated molecular analysis of adult T cell leukemia/lymphoma publication-title: Nat. Genet. doi: 10.1038/ng.3415 contributor: fullname: Kataoka – volume: 133 start-page: 303 issue: 2 year: 2009 ident: 10.1016/j.clim.2023.109732_bb0005 article-title: Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas publication-title: Arch. Pathol. Lab. Med. doi: 10.5858/133.2.303 contributor: fullname: Parveen – volume: 49 start-page: 1192 issue: 8 year: 2017 ident: 10.1016/j.clim.2023.109732_bb0070 article-title: Germline hypomorphic CARD11 mutations in severe atopic disease publication-title: Nat. Genet. doi: 10.1038/ng.3898 contributor: fullname: Ma – volume: 106 start-page: 221 issue: 2 year: 2021 ident: 10.1016/j.clim.2023.109732_bb0085 article-title: RLTPR Q575E: a novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma publication-title: Eur. J. Haematol. doi: 10.1111/ejh.13540 contributor: fullname: Uchida |
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| Snippet | Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8+ T cells, the genetic underpinnings of... Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8 T cells, the genetic underpinnings of... Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8 + T cells, the genetic underpinnings of... |
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| SubjectTerms | B cell lymphocytosis BENTA CARD11 CD8-Positive T-Lymphocytes - pathology Child, Preschool Humans Immunologic Deficiency Syndromes Lobular panniculitis Lymphocytosis Lymphoma, T-Cell - genetics Lymphoma, T-Cell - therapy Male Panniculitis - genetics Panniculitis - pathology Panniculitis - therapy SPTCL |
| Title | Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease |
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