University of Wisconsin Hematology

Other/rare hematologic malignancies; ALPS

Blastic plasmacytoid dendritic cell neoplasm

  1. Kharfan-Dabaja et al. How I treat blastic plasmacytoid dendritic cell neoplasm. Blood 2025;145:567
  2. Pemmaraju et al. North American Blastic Plasmacytoid Dendritic Cell Neoplasm Consortium: position on standards of care and areas of need. Blood 2023;141:567
  3. Pagano et al. Blastic plasmacytoid dendritic cell neoplasm: diagnostic criteria and therapeutical approaches. Br J Haem 2016;174:188
  4. Gonzaga and Fontes. Blastic plasmacytoid dendritic cell neoplasm. NEJM 2020;383:2158
  5. Taylor et al. Multicenter analysis of outcomes in blastic plasmacytoid dendritic cell neoplasm offers a pretargeted therapy benchmark. Blood 2019;134:678
  6. Agha et al. Venetoclax in a Patient with a Blastic Plasmacytoid Dendritic-Cell Neoplasm. NEJM 2018;379:1479
  7. Aoki et al. Long-term survival following autologous and allogeneic stem cell transplantation for blastic plasmacytoid dendritic cell neoplasm. Blood 2015;125:3559(Outcomes with autologous transplant at least as good as with allo-transplant in this series of 25 patients)
  8. Pemmaraju et al. Tagraxofusp in Blastic Plasmacytoid Dendritic-Cell Neoplasm. NEJM 2019;380:1628
  9. Pemmaraju et al. Long-Term Benefits of Tagraxofusp for Patients With Blastic Plasmacytoid Dendritic Cell Neoplasm. J Clin Oncol 2022;40:3032

Hairy cell leukemia

  1. Falini and Tiacci.  Hairy-Cell Leukemia. NEJM 2024;391:1328
  2. Troussard et al. Hairy cell leukemia 2024: Update on diagnosis, risk-stratification, and treatment.  Am J Hematol 2024;99:679
  3. Grever et al. Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia. Blood 2017;129:553
  4. Dinmohamed et al. Relative survival reaches a plateau in hairy cell leukemia: a population-based analysis in The Netherlands. Blood 2018;131:1380(“The great majority of HCL patients…can look forward to a normal life expectancy”)
  5. Tiacci et al. BRAF mutations in hairy-cell leukemia. NEJM 2011;364:2305(BRAF V600E mutation present in 100% of patients with HCL in this study)
  6. Falini et al. BRAF V600E mutation in hairy cell leukemia: from bench to bedside. Blood 2016;128:1918
  7. Dietrich et al. BRAF inhibition in refractor hairy-cell leukemia (letter). NEJM 2012;366:2038(Venfurafenib treatment)
  8. Pettirossi et al. BRAF inhibitors reverse the unique molecular signature and phenotype of hairy cell leukemia and exert potent antileukemic activity. Blood 2015;125:1207(“Results strongly support and inform the clinical use of BRAF and MEK inhibitors in HCL”)
  9. Tiacci et al. Targeting Mutant BRAF in Relapsed or Refractory Hairy-Cell Leukemia. NEJM 2015;373:1733(35-43% CR, 96-100% OR)
  10. Tiacci et al. Vemurafenib plus Rituximab in Refractory or Relapsed Hairy-Cell Leukemia. NEJM 2021;384:1810(87% CR, 78% PFS at 3 years)
  11. Handa et al. Long-term outcomes in patients with relapsed or refractory hairy cell leukemia treated with vemurafenib monotherapy. Blood 2022;140:2663
  12. Falini et al. How I treat refractory/relapsed hairy cell leukemia with BRAF inhibitors. Blood 2022;139:2294
  13. Sigal et al. Brief report. Very long-term eradication of minimal residual disease in patients with hairy cell leukemia after a single course of cladribine. Blood 2010; 115:1893
  14. Thomas et al.  Rituximab in relapsed or refractory hairy cell leukemia. Blood 2003;102:3906
  15. Ravandi et al. Phase 2 study of cladribine followed by rituximab in patients with hairy cell leukemia. Blood 2011;118:3818
  16. Chihara et al. Long-term durable remission by cladribine followed by rituximab in patients with hairy cell leukaemia: update of a phase II trial. Br J Haem 2016;174:760
  17. Chihara et al. Randomized Phase II Study of First-Line Cladribine With Concurrent or Delayed Rituximab in Patients With Hairy Cell Leukemia. J Clin Oncol 2020;38:1527 (Adding rituximab markedly increases proportion of patients who are MRD-free at 96 mo followup)
  18. Gerrie et al. Fludarabine and rituximab for relapsed or refractory hairy cell leukemia. Blood 2012;119:1988
  19. Rogers et al. Phase 2 study of ibrutinib in classic and variant hairy cell leukemia. Blood 2021;137:3473(Modest efficacy, ORR 24% at 32 weeks)
  20. Ravandi et al. Eradication of minimal residual disease in hairy cell leukemia. Blood 2006;107:4658
  21. Rosenberg et al. Clinical characteristics and long-term outcome of young hairy cell leukemia patients treated with cladribine: a single-institution series. Blood 2014;123:177 (Median duration of cladribine response 57 mo; median OS 231 mo in pts < 40)
  22. Forconi et al. Hairy cell leukemias with unmutated IGHV genes define the minor subset refractory to single-agent cladribine and with more aggressive behavior. Blood 2009;114:4696
  23. Arons et al. VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy. Blood 2009;114:4687
  24. Dietrich et al. BRAF inhibition in hairy cell leukemia with low-dose vemurafenib. Blood 2016;127:2847 (Retrospective study suggesting vemurafenib effective in HCL)
  25. Tiacci et al. Venetoclax in Relapsed or Refractory Hairy-Cell Leukemia. NEJM 2023;381:952 (PFS of 23-53 mo in 5/6 patients treated with venetoclax +/- rituximab)
  26. Kreitman et al. Dabrafenib plus trametinib in patients with relapsed/refractory BRAF V600E mutation–positive hairy cell leukemia. Blood 2023;141:996

Histiocytoses

  1. Emile et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood 2016;127:2672
  2. Goyal et al. Tumor mutational burden and other predictive immunotherapy markers in histiocytic neoplasms. Blood 2019;133:1607
  3. Durham et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med 2019;25:1839(Potential new targets for TKIs)
  4. Fajgenbaum and June. Cytokine storm. NEJM 2020;383:2255

Langerhans cell histiocytosis

  1. Goyal et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults.  Blood 2022; 139:2601
  2. Abla O. Langerhans cell histiocytosis: promises and caveats of targeted therapies in high-risk and CNS disease. Hematology Am Soc Hematol Educ Program (2023): 386
  3. Rodriguez-Galindo and Allen. Langerhans Cell Histiocytosis. Blood 2020;135:1319
  4. Berres et al. Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X? Br J Haematol 2015;169:3
  5. Milne et al. Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults. Blood 2017;130:167
  6. Durham et al. Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells. Blood 2017;130:176(BRAF mutations present in hematopoietic progenitors in adults with histiocytosis)
  7. Allen et al. How I treat Langerhans cell histiocytosis. Blood 2015;126:26
  8. Vasallo et al. Pulmonary Langerhans’-cell histiocytosis. NEJM 2000;342:1969
  9. Vassallo et al. Clinical outcomes in pulmonary Langerhans’-cell histiocytosis in adults. NEJM 2002;346:484
  10. Saven and Burian. Cladribine activity in adult Langerhans cell histiocytosis. Blood 1999;93:4125
  11. Gadner et al. Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis. Blood 2013;121:5006(Pediatric series)
  12. Donadieu et al. Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: results of an international phase 2 study. Blood 2015;126:1415(85% 5 yr OS; pediatric study)
  13. Donadieu et al. Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study. J Clin Oncol 2019;37:2857
  14. Eder et al. Vemurafenib acts as a molecular on-off switch governing systemic inflammation in Langerhans cell histiocytosis. Blood Adv 2022;6:970
  15. Zinn et al. Hydroxyurea: a new old therapy for Langerhans cell histiocytosis. Blood 2016;128:2462
  16. Badalian-Very et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010;116:1919
  17. Acosta-Medina et al. BRAFV600E is associated with higher incidence of second cancers in adults with Langerhans cell histiocytosis. Blood 2023;142:1570

Erdheim-Chester disease – non-Langerhans histiocytosis

  1. Haroche et al. Erdheim-Chester disease. Blood 2020;135:1311
  2. Goyal et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood 2020;135:1929
  3. Estrada-Veras et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Advances 2017;1:357
  4. Peyronel et al. Epidemiology and geographic clustering of Erdheim-Chester disease in Italy and France. Blood 2023;142:2119
  5. Molteni et al. Oncogene-induced maladaptive activation of trained immunity in the pathogenesis and treatment of Erdheim-Chester disease. Blood 2021;138:1554
  6. Reproducible and Sustained Efficacy of Targeted Therapy With Vemurafenib in Patients With BRAFV600E-Mutated Erdheim-Chester Disease. J Clin Oncol 2015;33:411
  7. Haroche et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood 2013;121:1495
  8. Hyman et al. Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations. NEJM 2015;373:726(43% response rate in LH or Erdheim-Chester dz)
  9. Goyal et al. Long-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease. Blood 2025;145:2100 (Vemurafenib and dabrafenib effective but toxic)
  10. Goyal et al. Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. JAMA Oncol 2017;3:1253
  11. Gianfreda et al. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial. Blood 2015;126:1163(8/10 patients improved or stabilized)
  12. Arnaud et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 2011;117:2778
  13. Aouba et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood 2010;116:4070
  14. Diamond et al. Consensus guidelines for the diagnosis and management of Erdheim-Chester disease. Blood 2014;124:483
  15. Aubart et al. Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). Blood 2017;130:1377
  16. Hervier et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood 2014;124:1119(Simultaneous occurrence of LCH and ECD not uncommon, associated with BRAF mutation)
  17. Papo et al. High prevalence of myeloid neoplasms in adults with non–Langerhans cell histiocytosis. Blood 2017;130:1007(About 10% of patients with ECD have a clonally distinct myeloid neoplasm)
  18. Aubart et al. High frequency of clonal hematopoiesis in Erdheim-Chester disease. Blood 2021;137:485
  19. Abla et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood 2018;132:2877
  20. Kemps et al. ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition. Blood 2022;139:256 (Most cases in infants & children)
  21. Ruan et al. Clinical characteristics, molecular aberrations, treatments, and outcomes of malignant histiocytosis. Am J Hematol 2024;99:871
  22. Tajirian et al. Multicentric reticulohistiocytosis. Clin Dermatol 2006;24:486

Hemophagocytic lymphohistiocytosis and related conditions

  1. Henter J-I. Hemophagocytic Lymphohistiocytosis. NEJM 2025;392:584
  2. La Rosée et al. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults. Blood 2019;133:2465
  3. Henter et al. Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited. Blood 2024;144:2308
  4. Canna and Marsh. Pediatric hemophagocytic lymphohistiocytosis. Blood 2020;135:1332
  5. Brisse et al. Understanding the spectrum of haemophagocytic lymphohistiocytosis: update on diagnostic challenges and therapeutic options. Br J Haem 2016;174:175
  6. Brisse et al. Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities. Br J Haem 2016;174:203
  7. Carvelli et al. Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect. Blood 2020;136:542(Cytokine storm in adult HLH)
  8. Fardet et al. Development and Validation of the HScore, a Score for the Diagnosis of Reactive Hemophagocytic Syndrome. Arth Rheum 2014;66:2613
  9. Brito-Zerón et al. Prognostic Factors of Death in 151 Adults With Hemophagocytic Syndrome: Etiopathogenically Driven Analysis. Mayo Clin Proc Innov Qual Outcomes 2018; 2:267
  10. Croden et al. Incidence of bleeding and thromboembolism and impact on overall survival in adult patients with hemophagocytic lymphohistiocytosis: A 20-year provincial retrospective cohort study. J Thromb Haemost 2022;20:671
  11. Zoref-Lorenz et al. An improved index for diagnosis and mortality prediction in malignancy-associated hemophagocytic lymphohistiocytosis. Blood 2022;139:1098
  12. Zhang et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood 2011;118:5794(Age at onset up to75 y)
  13. Weiss et al. Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome. Blood 2018;131:1442(Chronic elevation of IL-18 associated with susceptibility to MAS and non-familial HLH)
  14. Löfstedt et al. Malignancy-associated hemophagocytic lymphohistiocytosis in Sweden: incidence, clinical characteristics, and survival. Blood 2024;143:233
  15. Wen et al. Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma. Nat Med 2018;24:154(Thalidomide as a possible therapy for HPS)
  16. Akilesh et al. Chronic TLR7 and TLR9 signaling drives anemia via differentiation of specialized hemophagocytes. Science 2019;363:eaao5213(Monocytes that recognize self-or pathogen-derived nucleic acids via Toll-like receptors drive MAS-like disease in mice)
  17. Schram and Berliner. How I treat hemophagocytic lymphohistiocytosis in the adult patient. Blood 2015;125:2908
  18. Henter et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 2002;100:2367
  19. Bergsten et al. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study. Blood 2017;130:2728 (In children)
  20. Böhm et al. Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation. Blood 2024;143:872
  21. Wang et al. Multicenter study of combination DEP regimen as a salvage therapy for adult refractory hemophagocytic lymphohistiocytosis.
  22. Blood 2015;126:2186(Liposomal doxorubicin, etoposide, dexamethasone)
  23. Schulert and Grom. Pathogenesis of macrophage activation syndrome and potential for cytokine-directed therapies. Ann Rev Med 2014 (ePub)
  24. Schram et al. Marked hyperferritinemia does not predict for HLH in the adult population. Blood 2014;125:1548
  25. Fardet et al. Development and Validation of the HScore, a Score for the Diagnosis of Reactive Hemophagocytic Syndrome. Arth Rheum 2014;66:2613
  26. Kumakura and Murakawa. Clinical Characteristics and Treatment Outcomes of Autoimmune-Associated Hemophagocytic Syndrome in Adults. Arth Rheum 2014;66:2297
  27. de Mooij et al. Targeting the interleukin-1 pathway in patients with hematological disorders. Blood 2017;129:3155(Potential treatment for Erdheim-Chester disease, HLH and macrophage activation syndrome)
  28. Broglie et al. Ruxolitinib for treatment of refractory hemophagocytic lymphohistiocytosis. Blood Adv 2017;1:1533
  29. Ahmed et al. Ruxolitinib in adult patients with secondary haemophagocytic lymphohistiocytosis: an open-label, single-centre, pilot trial. Lancet Haematol 2019;6:e630
  30. Zhang et al. A study of ruxolitinib response–based stratified treatment for pediatric hemophagocytic lymphohistiocytosis. Blood 2022;139:3493
  31. Zhou et al. Ruxolitinib combined with dexamethasone for adult patients with newly diagnosed hemophagocytic lymphohistiocytosis in China. Blood 2025;146:318
  32. Vallurupalli and Berliner. Emapalumab for the treatment of relapsed/refractory hemophagocytic lymphohistiocytosis. Blood 2019;134:1783
  33. Locatelli et al. Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis. NEJM 2020;382:1811
  34. Verkamp et al. Emapalumab therapy for hemophagocytic lymphohistiocytosis before reduced-intensity transplantation improves chimerism. Blood 2024;144:2625
  35. Liu et al. Nivolumab treatment of relapsed/refractory Epstein-Barr virus–associated hemophagocytic lymphohistiocytosis in adults. Blood 2020;135:826(CR in 5/7 patients, EBV cleared in 4/7)
  36. Meyer et al. JAK/STAT pathway inhibition sensitizes CD8 T cells to dexamethasone-induced apoptosis in hyperinflammation. Blood 2020;136:657
  37. Yao et al. Transplantation in adult patients with Epstein-Barr virus–associated hemophagocytic lymphohistiocytosis: yes or no?. Blood 2024;144:2107

Castleman disease

  1. Dispenzieri and Fajgenbaum. Overview of Castleman disease. Blood 2020;135:1353
  2. van Rhee et al. International, evidence-based consensus treatment guidelines for idiopathic multicentric Castleman disease. Blood 2018;132:2115
  3. Liu et al. Idiopathic multicentric Castleman’s disease: a systematic literature review. Lancet Haematol 2016;3:e163
  4. Herrada et al. The clinical behavior of localized and multicentric Castleman’s disease. Ann Intern Med 1998;128:657
  5. Fajgenbaum et al. HHV-8-negative, idiopathic multicentric Castleman disease: novel insights into biology, pathogenesis, and therapy. Blood 2014;123:2924
  6. Mukherjee et al. Epidemiology and treatment patterns of idiopathic multicentric Castleman disease in the era of IL-6–directed therapy. Blood Adv 2022;6:359
  7. Fajgenbaum et al. International, evidence-based consensus diagnostic criteria for HHV-8–negative/idiopathic multicentric Castleman disease. Blood 2017;129:1646
  8. Fajgenbaum DC. Novel insights and therapeutic approaches in idiopathic multicentric Castleman disease. Blood 2018;132:2323
  9. Yu et al. Clinical and pathological characteristics of HIV- and HHV-8–negative Castleman disease. Blood 2017;129:1658
  10. Polizzotto et al. Human and viral interleukin-6 and other cytokines in Kaposi sarcoma herpesvirus-associated multicentric Castleman disease. Blood 2013;122:4189
  11. Nishimoto et al. Humanized anti�interleukin-6 receptor antibody treatment of multicentric Castleman disease. Blood 2005;106:2627
  12. Bower et al. Brief Communication: Rituximab in HIV-Associated Multicentric Castleman Disease. Ann Intern Med 2007;147:836
  13. Gérard et al. Prospective Study of Rituximab in Chemotherapy-Dependent Human Immunodeficiency Virus–Associated Multicentric Castleman’s Disease: ANRS 117 CastlemaB Trial. J Clin Oncol 2007;25:3350
  14. Hoffman et al. Improved outcome with rituximab in patients with HIV-associated multicentric Castleman disease. Blood 2011;118:3499
  15. Gérard et al. Rituximab decreases the risk of lymphoma in patients with HIV-associated multicentric Castleman disease. Blood 2012;119:2228
  16. Dalla Pria et al. Relapse of HHV8-positive multicentric Castleman disease following rituximab-based therapy in HIV-positive patients. Blood 2017;129:2143(Most patients can be salvaged by retreating with rituximab; risk of HHV8-related lymphoma high)
  17. van Rhee et al. Long-term safety of siltuximab in patients with idiopathic multicentric Castleman disease: a prespecified, open-label, extension analysis of two trials. Lancet Haematol 2020;7:e209
  18. Uldrick et al. High-dose zidovudine plus valganciclovir for Kaposi sarcoma herpesvirus-associated multicentric Castleman disease: a pilot study of virus-activated cytotoxic therapy. Blood 2011;117:6977
  19. Zhang et al. Phase 2 study using oral thalidomide-cyclophosphamide-prednisone for idiopathic multicentric Castleman disease. Blood 2019;133:1720
  20. Zhang et al. A phase 2 prospective study of bortezomib, cyclophosphamide, and dexamethasone in patients with newly diagnosed iMCD. Blood 2023;141:2654
  21. Igawa and Sato. TAFRO syndrome. Hematol Oncol Clin North Am 2018;32:107 (Castleman variant with thrombocytopenia, anasarca, fever, reticulin fibrosis and organomegaly)
  22. Killian et al. JAK1/2 Inhibition in Severe TAFRO Syndrome: A Case Report. Ann Intern Med 2021;174:719
  23. Arenas et al. Increased mTOR activation in idiopathic multicentric Castleman disease. Blood 2020;135:1673
  24. Mumau et al. Identifying and Targeting TNF Signaling in Idiopathic Multicentric Castleman’s Disease. NEJM 2025;392:616

HTLV-I, II

  1. Bartman et al. Long-term increases in lymphocytes and platelets in human T-lymphotropic virus type II infection. Blood 2008;112:3995
  2. Iwanaga et al. Human T-cell leukemia virus type I (HTLV-1) proviral load and disease progression in asymptomatic HTLV-1 carriers: a nationwide prospective study in Japan. Blood 2010;116: 1211
  3. Watanabe T. Adult T-cell leukemia: molecular basis for clonal expansion and transformation of HTLV-1–infected T cells. Blood 2017;129:1071

Autoimmune lymphoproliferative syndrome (ALPS) and related disorders

  1. Rao et al. Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome. Hematology 2024:1:126
  2. Oliviera et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood Adv 2024;116:e35
  3. Price et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 2014;123:1989
  4. Rao and Oliveira. How I treat autoimmune lymphoproliferative syndrome. Blood 2011;118:5741
  5. Molnár et al. Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis. Blood 2020;136:1933
  6. Bride et al. Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. Blood 2016;127:17(Pediatric study, patients had multilineage immune cytopenia due to ALPS, CVID, Evans syndrome or SLE)
  7. Michel et al. The spectrum of Evans syndrome in adults: new insight into the disease based on the analysis of 68 cases. Blood 2009;114:3167(50% had associated autoimmune, lymphoproliferative or immunodeficiency disease)
  8. Seif et al. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood 2010; 115:2142 (> 5% double-negative T cells in peripheral blood a strong predictor of ALPS)
  9. Hadjadj et al. Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 2019;134:9
  10. Kumar et al. T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome. Blood 2022;139:369
  11. Dowdell et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood 2010;115:5164
  12. Neven et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011;118:4798
  13. Völkl et al. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. Blood 2016;128:227
  14. Holzelova et al. Autoimmune Lymphoproliferative Syndrome with Somatic Fas Mutationsn NEJM 2004;351:1409
  15. Calvo et al. JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. Blood 2015;125:2753
  16. Lo et al. CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency. Blood 2016;128:1037
  17. Rensing-Ehl et al. Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. Blood 2015;126:1967
  18. Neven et al. Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD). J Clin Immunol 2021;41:51
  19. Maccari et al. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J All Clin Immunol 2023;152:984
  20. Rao et al. Long-term treatment with selective PI3Kδ inhibitor leniolisib in adults with activated PI3Kδ syndrome. Blood Adv 2024;8:3092

HHV 8-related diseases

  1. Cesarman et al. KSHV/HHV8-mediated hematologic diseases. Blood 2022;139
  2. Oksenhendler et al. Kaposi sarcoma–associated herpesvirus/human herpesvirus 8–associated lymphoproliferative disorders. Blood 2019;133:1186
  3. Shimada et al. Biology and management of primary effusion lymphoma. Blood 2018;132:1879
  4. Lurain et al. Viral, immunologic, and clinical features of primary effusion lymphoma. Blood 2019;133:1753
  5. Riva et al. How I treat HHV8/KSHV-related diseases in posttransplant patients. Blood 2012;120:4150(Kaposi sarcoma, primary effusion lymphoma, multicentric Castleman disease)
  6. Kaplan LD. Human herpesvirus-8: Kaposi sarcoma, multicentric Castleman disease, and primary effusion lymphoma. Hematology 2013:103
  7. Shah et al. Daratumumab in Primary Effusion Lymphoma (letter). NEJM 2018;379:689

Intravascular lymphoma

  1. Ponzoni et al. Intravascular large B-cell lymphoma: a chameleon with multiple faces and many masks. Blood 2018;132:1561
  2. Murase et al. Intravascular large B-cell lymphoma (IVLBCL): a clinicopathologic study of 96 cases with special reference to the immunophenotypic heterogeneity of CD5.  Blood 2007;109:478
  3. Matsue et al. Sensitivity and specificity of incisional random skin biopsy for diagnosis of intravascular large B-cell lymphoma. Blood 2019;133:1257(Biopsy of 3 sites had 78% sensitivity, 99% specificity)

Other/general

  1. Carbone and Santoro. How I treat: diagnosing and managing “in situ” lymphoma. Blood 2011;117:3954
  2. McClain et al.  Atypical cellular disorders. Hematology 2004:283
  3. Al-Saleem and Al-Mondhiry.Immunoproliferative small intestinal disease (IPSID): a model for mature B-cell neoplasms. Blood 2005;105:2274
  4. Lesesve and Troussard. Persistent polyclonal B-cell lymphocytosis. Blood 2011;118:6485
  5. Mossafa et al. Persistent polyclonal B lymphocytosis with binucleated lymphocytes: a study of 25 cases. Br JHaematol 1999;104:486
  6. Delage et al. Persistent polyclonal B‐cell lymphocytosis: further evidence for a genetic disorder associated with B‐cell abnormalities. Br J Haematol 2001;114:666
  7. Stone et al. IgG4-related disease. NEJM 2012;366:539 (Autoimmune lymphoproliferation with multisystem fibrosis and organ dysfunction)
  8. Stone et al. Diagnostic approach to the complexity of IgG4-related disease. Mayo Clin Proc 2015;90:927
  9. Stone et al. Inebilizumab for Treatment of IgG4-Related Disease. NEJM 2025;392:1168