Research & Literature

X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.

Aguilar C, Latour S

Journal of clinical immunology 2015; (35(4)):331-8 doi:10.1007/s10875-015-0141-9.

Epstein-Barr virus-positive nodal T/NK-cell lymphoma: an analysis of 15 cases with distinct clinicopathological features.

Jeon YK, Kim JH, Sung JY, et al.

Human pathology 2015; (46(7)):981-90.

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.

Halacli SO, Ayvaz DC, Sun-Tan C, et al.

Clinical immunology (Orlando, Fla.) 2015; (161(2)):316-23.

Quantitative PCR for Plasma Epstein-Barr Virus Loads in Cancer Diagnostics.

Loghavi S

Methods in molecular biology (Clifton, N.J.) 2016; (1392()):51-61 doi:10.1007/978-1-4939-3360-0_6.

Adverse events following immunization in patients with primary immunodeficiencies.

Sarmiento JD, Villada F, Orrego JC, et al.

Vaccine 2016; (34(13)):1611-1616 doi:10.1016/j.vaccine.2016.01.047.

Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

Madkaikar M, Aluri J, Gupta S

Indian journal of pediatrics 2016; (83(5)):455-62 doi:10.1007/s12098-016-2059-5.

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Boztug H, Hirschmugl T, Holter W, et al.

Journal of clinical immunology 2016; (36(6)):533-40 doi:10.1007/s10875-016-0306-1.

When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach.

Jolles S, Chapel H, Litzman J

Clinical and experimental immunology 2017; (188(3)):333-341 doi:10.1111/cei.12915.

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.

Izawa K, Martin E, Soudais C, et al.

The Journal of experimental medicine 2017; (214(1)):73-89 doi:10.1084/jem.20160784.

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.

Abolhassani H, Edwards ES, Ikinciogullari A, et al.

The Journal of experimental medicine 2017; (214(1)):91-106 doi:10.1084/jem.20160849.

2B4-SAP signaling is required for the priming of naive CD8+ T cells by antigen-expressing B cells and B lymphoma cells.

Huang YH, Tsai K, Tan SY, et al.

Oncoimmunology 2017; (6(2)):e1267094 doi:10.1080/2162402X.2016.1267094.

Haploidentical hematopoietic stem cell transplantation for adult patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Li Z, Wang Y, Wang J, et al.

Leukemia & lymphoma 2018; (59(1)):77-84 doi:10.1080/10428194.2017.1330467.

Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

Bergsten E, Horne A, Aricó M, et al.

Blood 2017; (130(25)):2728-2738 doi:10.1182/blood-2017-06-788349.

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.

Aghamohammadi A, Abolhassani H, Kutukculer N, et al.

Frontiers in immunology 2017; (8()):685 doi:10.3389/fimmu.2017.00685.

Chronic Active Epstein-Barr Virus Disease.

Kimura H, Cohen JI

Frontiers in immunology 2017; (8()):1867 doi:10.3389/fimmu.2017.01867.

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Caorsi R, Rusmini M, Volpi S, et al.

Frontiers in immunology 2017; (8()):2015 doi:10.3389/fimmu.2017.02015.

Cytomegalovirus and Epstein-Barr Virus DNA Kinetics in Whole Blood and Plasma of Allogeneic Hematopoietic Stem Cell Transplantation Recipients.

Lazzarotto T, Chiereghin A, Piralla A, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(8)):1699-1706 doi:10.1016/j.bbmt.2018.03.005.

[Clinical and pathological features of 13 children with Epstein-Barr virus-positive lymphoproliferative disease].

Chen TM, Deng ZJ, Hu B, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(10)):759-764 doi:10.3760/cma.j.issn.0578-1310.2018.10.008.

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication.

Galal NM, Meshaal S, ElHawary R, et al.

BMC research notes 2018; (11(1)):717 doi:10.1186/s13104-018-3822-7.

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C, Schlütermann D, Hönscheid A, et al.

Frontiers in immunology 2018; (9()):2400 doi:10.3389/fimmu.2018.02400.

[Clinical features of children with Epstein-Barr virus-related acute liver failure: an analysis of four cases].

Liu RH, Li J, Qu NY, Li ZP

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(12)):1030-1033.

Health-Related Quality of Life in Children and Adults with Primary Immunodeficiencies: A Systematic Review and Meta-Analysis.

Peshko D, Kulbachinskaya E, Korsunskiy I, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(6)):1929-1957.e5 doi:10.1016/j.jaip.2019.02.013.

A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.

Cansever M, Zietara N, Chiang SCC, et al.

Journal of pediatric hematology/oncology 2020; (42(2)):156-159 doi:10.1097/MPH.0000000000001487.

Treating Hodgkin lymphoma in the new millennium: Relapsed and refractory disease.

LaCasce AS

Hematological oncology 2019; (37 Suppl 1()):87-91 doi:10.1002/hon.2589.

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.

Matsuda-Lennikov M, Biancalana M, Zou J, et al.

The Journal of biological chemistry 2019; (294(37)):13638-13656 doi:10.1074/jbc.RA119.008903.

Periodontal Disease in Patients Receiving Dialysis.

Miyata Y, Obata Y, Mochizuki Y, et al.

International journal of molecular sciences 2019; (20(15)) doi:10.3390/ijms20153805.

Multiple Brain Biopsies for Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma with Extensive Necrosis in a Posttransplant Patient.

Hoang Oanh DT, Jung TY, Kim SK, et al.

World neurosurgery 2020; (133()):10-13 doi:10.1016/j.wneu.2019.09.084.

Impact of IVIG vs. SCIG on IgG trough level and infection incidence in primary immunodeficiency diseases: A systematic review and meta-analysis of clinical studies.

Shrestha P, Karmacharya P, Wang Z, et al.

The World Allergy Organization journal 2019; (12(10)):100068 doi:10.1016/j.waojou.2019.100068.

Quality of Life Differences for Primary Immunodeficiency Patients on Home SCIG versus IVIG.

Anterasian C, Duong R, Gruenemeier P, et al.

Journal of clinical immunology 2019; (39(8)):814-822 doi:10.1007/s10875-019-00705-5.

Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report.

Mărginean MO, Molnar E, Chinceşan MI

Medicine 2020; (99(3)):e18759 doi:10.1097/MD.0000000000018759.

Reactivation of Epstein-Barr Virus Hepatitis in T/Natural Killer (NK) Cells Mimicking Liver T/NK-Cell Lymphoma.

Kwong S, Lu X, Liu X, Lai J

Gastroenterology research 2020; (13(2)):81-84 doi:10.14740/gr1283.

Impact of Myc in HIV-associated non-Hodgkin lymphomas treated with EPOCH and outcomes with vorinostat (AMC-075 trial).

Ramos JC, Sparano JA, Chadburn A, et al.

Blood 2020; (136(11)):1284-1297 doi:10.1182/blood.2019003959.

An Update on XMEN Disease.

Ravell JC, Chauvin SD, He T, Lenardo M

Journal of clinical immunology 2020; (40(5)):671-681 doi:10.1007/s10875-020-00790-x.

Management of Epstein-Barr virus-related post-transplant lymphoproliferative disorder after allogeneic hematopoietic stem cell transplantation.

Liu L, Liu Q, Feng S

Therapeutic advances in hematology 2020; (11()):2040620720910964 doi:10.1177/2040620720910964.

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S, Köstel Bal S, Edwards ESJ, et al.

Blood 2020; (136(23)):2638-2655 doi:10.1182/blood.2020006738.

Update on Immunodeficiency-Associated Vaccine-Derived Polioviruses - Worldwide, July 2018-December 2019.

Macklin G, Diop OM, Humayun A, et al.

MMWR. Morbidity and mortality weekly report 2020; (69(28)):913-917 doi:10.15585/mmwr.mm6928a4.

Kinetics of cytomegalovirus and Epstein-Barr virus DNA in whole blood and plasma of kidney transplant recipients: Implications on management strategies.

Lazzarotto T, Chiereghin A, Piralla A, et al.

PloS one 2020; (15(8)):e0238062 doi:10.1371/journal.pone.0238062.

CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.

Krüger R, Martin E, Dmytrus J, et al.

Frontiers in immunology 2020; (11()):1593 doi:10.3389/fimmu.2020.01593.

Clinical Significance of Down-Regulated CD70 and CD27 Expression in Poor Prognosis of Esophageal Squamous Cell Carcinoma.

Shan TT, Zhao X, Zhang Z, et al.

Cancer management and research 2020; (12()):6909-6920 doi:10.2147/CMAR.S241377.

A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis.

Smits BM, van Montfrans J, Merrill SA, et al.

Journal of clinical immunology 2021; (41(6)):1219-1228 doi:10.1007/s10875-021-01005-7.

Rituximab-containing immuno-chemotherapy regimens are effective for the elimination of EBV for EBV-HLH with only and mainly B lymphocytes of EBV infection.

Meng GQ, Wang JS, Wang YN, et al.

International immunopharmacology 2021; (96()):107606 doi:10.1016/j.intimp.2021.107606.

Detection of Epstein-Barr virus encoded RNA in fixed cells and tissues using CRISPR/Cas-mediated RCasFISH.

Chen K, Wang M, Zhang R, Li J

Analytical biochemistry 2021; (625()):114211 doi:10.1016/j.ab.2021.114211.

Specific Immune Response and Cytokine Production in CD70 Deficiency.

Abolhassani H

Frontiers in pediatrics 2021; (9()):615724 doi:10.3389/fped.2021.615724.

Virus-triggered secondary hemophagocytic lymphohistiocytosis.

Imashuku S, Morimoto A, Ishii E

Acta paediatrica (Oslo, Norway : 1992) 2021; (110(10)):2729-2736 doi:10.1111/apa.15973.

Immunoglobulin replacement for primary immunodeficiency: Indications for initiating and continuing treatment.

Wasserman RL

Allergy and asthma proceedings 2021; (42(6)):489-494 doi:10.2500/aap.2021.42.210082.

A rare B-cell type chronic active Epstein-Barr virus infection patient mimicking lymphoma on 18F-FDG PET/CT and literature review.

Jiao H, Zhang Y, Chen Z, et al.

American journal of nuclear medicine and molecular imaging 2022; (12(4)):129-137.

A clinician's guide for administration of high-concentration and facilitated subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency diseases.

Epland K, Suez D, Paris K

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):87 doi:10.1186/s13223-022-00726-7.

When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.

Sacco KA, Notarangelo LD, Delmonte OM

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2023; (29(4)):457-462 doi:10.1016/j.cmi.2022.10.003.

Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study.

Ahmed Meelad R, Abd Hamid IJ, Zainudeen ZT, et al.

Journal of clinical immunology 2023; (43(5)):999-1006 doi:10.1007/s10875-023-01463-1.

Evaluation of Psychiatric Symptomatology, Quality of Life, and Caregiver Burden in Mothers and Children with Primary Immunodeficiency.

Kılıç N, Kaya Ş, Taşçı G, et al.

Allergologia et immunopathologia 2023; (51(6)):45-53 doi:10.15586/aei.v51i6.927.

Signaling via a CD27-TRAF2-SHP-1 axis during naive T cell activation promotes memory-associated gene regulatory networks.

Jaeger-Ruckstuhl CA, Lo Y, Fulton E, et al.

Immunity 2024; (57(2)):287-302.e12 doi:10.1016/j.immuni.2024.01.011.

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Sil A, Basu S, Joshi V, et al.

Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.

Defining and Grading Infections in Clinical Trials Involving Hematopoietic Cell Transplantation: A Report From the BMT CTN Infectious Disease Technical Committee.

Shahid Z, Etra AM, Levine JE, et al.

Transplantation and cellular therapy 2024; (30(5)):540.e1-540.e13 doi:10.1016/j.jtct.2024.03.001.

Iatrogenic immunodeficiency-associated lymphoproliferative disorder presenting as small bowel perforation.

Gunasingha RMKD, Herrick-Reynolds K, Sanford JA, Radowsky J

BMJ case reports 2024; (17(3)) doi:10.1136/bcr-2023-257148.

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.

Giardino G, Lanni V, Mascolo M, et al.

Frontiers in immunology 2024; (15()):1370991 doi:10.3389/fimmu.2024.1370991.

Pediatric Plasmablastic Lymphoma in the Setting of CD70 Deficiency.

Baskin K, Vural O, Haskologlu S, et al.

Journal of pediatric hematology/oncology 2024; (46(8)):438-441 doi:10.1097/MPH.0000000000002948.

Protective antibody concentrations in primary immunodeficiency following infusion with 5% or 10% intravenous immunoglobulin.

Paddick M, Clark K, Wolford E, More J

Allergy and asthma proceedings 2024; (45(6)):414-420 doi:10.2500/aap.2024.45.240033.

Immunoglobulin therapies for primary immunodeficiency diseases (part 2): considerations for dosing strategies.

Li Z, Mahmood I

Immunotherapy 2024; (16(13)):895-905 doi:10.1080/1750743X.2024.2382074.

Low-dose emapalumab combined with chemotherapy for adult patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Zhu W, Zhou F, Song Y, et al.

Transplant immunology 2025; (88()):102162 doi:10.1016/j.trim.2024.102162.

Multicenter validation of secondary hemophagocytic lymphohistiocytosis diagnostic criteria.

Lachmann G, Heeren P, Schuster FS, et al.

Journal of internal medicine 2025; (297(3)):312-327 doi:10.1111/joim.20065.

Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult.

Nazarali S, Derfalvi B, Clark P

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (21(1)):19 doi:10.1186/s13223-025-00965-4.

Epstein-Barr Virus-Positive Lymphoproliferative Disorder in an HIV Patient Successfully Treated With Rituximab.

Karapetians AG, Ayyagari T, Montana W

Cureus 2025; (17(9)):e92816 doi:10.7759/cureus.92816.

Drug-Induced Gingival Overgrowth Associated With Cyclosporine Therapy: A Case Report of a 23-Year Periodontal Follow-Up in a Heart Transplant Recipient.

Valente P, Sbrenna L, Valente F, et al.

Cureus 2025; (17(11)):e97019 doi:10.7759/cureus.97019.

Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.

Yang R, Turunbedu SK, Nandiwada S, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.01.15.698722.

Acquired immune deficiency syndrome-related intravascular large B-cell lymphoma primarily arising from lymph nodes: a case report.

Zhang W, Li QS, Deng CG, Yuan J

Frontiers in oncology 2026; (16()):1767472 doi:10.3389/fonc.2026.1767472.

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Laberko A, Gennery AR

Expert review of clinical immunology 2026; (22(2)):183-193 doi:10.1080/1744666X.2026.2641540.

Vulnerability beyond infection: Effects of peer victimization on quality of life and psychosocial well-being in inborn errors of immunity.

Meric Z, Durcan G, Coban ZB, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(3)):e70318 doi:10.1111/pai.70318.

Plasmablastic Lymphoma: 2026 Update on Diagnosis, Risk Stratification, and Management.

Castillo JJ, Beltrán BE, Florindez JA, et al.

American journal of hematology 2026; (101(8)):1997-2006 doi:10.1002/ajh.70373.

Current outlook on the use of biological agents to improve outcomes in adult secondary hemophagocytic lymphohistiocytosis.

Ghonge A, Samperio VM, Hamoud M, Dasanu CA

Expert opinion on biological therapy 2026; (26(6)):577-585 doi:10.1080/14712598.2026.2693759.

Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Lawrence MG, Kim VHD, Orange JS, Scherzer R

The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.

Severe onset type 1 diabetes mellitus with unusual manifestations due to CD70 deficiency: novel pathway in deciphering the etiopathogenesis of type 1 diabetes mellitus, and the experience with hematopoietic stem cell transplantation.

Unsal Y, Sancak E, Çelik Ertaş NB, et al.

Pediatric diabetes 2026; (2026()):e003 doi:10.48130/pedi-0026-0004.