406 results match your criteria Lymphoproliferative Syndrome X-linked


Infection-induced inflammation from specific inborn errors of immunity to COVID-19.

FEBS J 2021 May 10. Epub 2021 May 10.

Institute of Molecular Biology, Academia Sinica, Taipei.

Inborn error of immunity (IEIs) are a group of genetically-defined disorders leading to defective immunity. Some IEIs have been linked to mutations of immune receptors or signaling molecules, resulting in defective signaling of respective cascades essential for combating specific pathogens. However, it remains incompletely understood why in selected IEIs, such as X-linked lymphoproliferative syndrome type-2 (XLP-2), hypo-immune response to specific pathogens results in persistent inflammation. Read More

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Preimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1.

Front Genet 2020 4;11:550507. Epub 2020 Nov 4.

The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Background: X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency disorder. We performed experiments based on two strategies of preimplantation genetic testing (PGT) for a family with XLP caused by a mutation in (c.191G > A). Read More

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November 2020

T cell gene therapy to treat immunodeficiency.

Br J Haematol 2021 Feb 10;192(3):433-443. Epub 2020 Sep 10.

Molecular and Cellular Immunology Section, UCL Great Ormond Street Institute of Child Health, London, UK.

The application of therapeutic T cells for a number of conditions has been developed over the past few decades with notable successes including donor lymphocyte infusions, virus-specific T cells and more recently CAR-T cell therapy. Primary immunodeficiencies are monogenetic disorders leading to abnormal development or function of the immune system. Haematopoietic stem cell transplantation and, in specific candidate diseases, haematopoietic stem cell gene therapy has been the only definitive treatment option so far. Read More

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February 2021

[Lymphoproliferative disorders and inborn errors of immunity].

Rinsho Ketsueki 2020 ;61(9):1365-1372

Department of Pediatrics, Hiroshima University Institute of Biomedical and Health Sciences.

Lymphoproliferative disease (LPD) is a comprehensive concept covering diseases ranging from transient lymphadenopathy to lymphoma. LPD is frequently associated with Epstein-Barr virus (EBV) infections and tends to occur in patients with inborn errors of immunity (IEI) and in patients after organ transplantation. Most patients with severe combined immunodeficiency or X-linked lymphoproliferative disease develop LPD. Read More

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January 2021

Epstein-Barr virus-associated lymphocytic cholangitis in a child with X-linked lymphoproliferative syndrome.

Scand J Immunol 2021 Feb 23;93(2):e12975. Epub 2020 Sep 23.

Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

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February 2021

Hemophagocytic lymphohistiocytosis secondary to X-linked lymphoproliferative syndrome type 2.

Med Clin (Barc) 2020 Aug 17. Epub 2020 Aug 17.

Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, España.

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A novel pathogenic SH2D1A mutation for X-linked lymphoproliferative syndrome type 1.

Clin Immunol 2020 10 10;219:108569. Epub 2020 Aug 10.

Division of Allergy Immunology and Dermatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.

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October 2020

Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2.

Pediatr Blood Cancer 2021 Feb 19;68(2):e28592. Epub 2020 Jul 19.

Division of Hematology/Oncology and Blood and Marrow Transplant Program, Children's Hospital of Michigan, Carman and Ann Adams Department of Pediatrics, Barbara Ann Karmanos Cancer Center, Central Michigan University College of Medicine, Detroit, Michigan.

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February 2021

[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis].

Zhonghua Xue Ye Xue Za Zhi 2020 Jun;41(6):511-516

Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

This study was designed to evaluate the efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) for adult-onset primary hemophagocytic lymphohistiocytosis (HLH) . A retrospective study was carried out to analyze the clinical data of 15 adult patients with primary HLH who received haplo-HSCT from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University, Beijing, China. Among the 15 patients included in the study, ten were males and five were females, with a median age of 21 years old (18-52) . Read More

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Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.

J Clin Immunol 2020 08 5;40(6):893-900. Epub 2020 Jul 5.

Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, P.R., China.

Purpose: X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in the XIAP/BIRC4 gene is a rare inherited primary immunodeficiency also known as X-linked lymphoproliferative syndrome type 2 (XLP2). Hematopoietic stem cell transplantation (HSCT) is currently the only curative strategy available. However, few studies of haploidentical HSCT have been published regarding the outcomes in patients with this syndrome. Read More

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Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.

Cell Death Dis 2020 06 8;11(6):430. Epub 2020 Jun 8.

Department of Immunology, 2nd Faculty of Medicine Charles University, University Hospital in Motol, V Uvalu 84, Prague, Czech Republic.

X-linked inhibitor of apoptosis (XIAP) is the most potent human inhibitor of apoptosis, and is also involved in NOD2-dependent NFκB and MAPK signalling cascade activation. The absence or defective function of XIAP leads to the development of a rare and severe primary immunodeficiency known as X-linked lymphoproliferative syndrome type 2 (XLP-2), which is characterized by a triad of clinical manifestations, including a high incidence of haemophagocytic lymphohistiocytosis (HLH), lymphoproliferation and inflammatory bowel disease (IBD), usually with very early onset. Here, we present a novel XIAP mutation identified in a patient with atypical adult-onset IBD complicated by relapsing HLH, splenomegaly and sarcoid-like disease. Read More

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A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response.

J Pediatric Infect Dis Soc 2021 Apr;10(3):345-348

Khoo Teck Puat National University Children's Medical Institute, National University Health System, Singapore.

We report on 2 Asian siblings with X-linked inhibitor of apoptosis deficiency that arose from a novel deletion that presented with Epstein-Barr virus disease and hemophagocytic lymphohistiocytosis. This disease is ascribed to dysfunction in the nucleotide binding and oligomerization domain receptor pathway, tested using a modified muramyl dipeptide-mediated assay. Read More

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Pediatric hemophagocytic lymphohistiocytosis.

Blood 2020 04;135(16):1332-1343

Division of Bone Marrow Transplantation and Immune Deficiency, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome describing patients with severe systemic hyperinflammation. Characteristic features include unremitting fever, cytopenias, hepatosplenomegaly, and elevation of typical HLH biomarkers. Patients can develop hepatitis, coagulopathy, liver failure, central nervous system involvement, multiorgan failure, and other manifestations. Read More

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Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Allergy Asthma Immunol Res 2020 03;12(2):292-305

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Purpose: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.

Methods: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. Read More

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X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Eur J Pediatr 2020 Feb 21;179(2):327-338. Epub 2019 Nov 21.

Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.

X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively. Few cases of XLP (particularly XIAP deficiency) have been reported in mainland China; hence, little is known about the characteristics of Chinese patients with XLP. We identified 13 and 7 patients with SAP and XIAP deficiency, respectively, in our center. Read More

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February 2020

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

J Clin Invest 2020 01;130(1):507-522

National Human Genome Research Institute, and.

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells (αβDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor. Read More

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January 2020

Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity.

Front Immunol 2019 4;10:2108. Epub 2019 Sep 4.

Immunology Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.

The advent of flow cytometry has revolutionized the way we approach our research and answer specific scientific questions. The flow cytometer has also become a mainstream diagnostic tool in most hospital and pathology laboratories around the world. In particular the application of flow cytometry has been instrumental to the diagnosis of primary immunodeficiencies (PIDs) that result from monogenic mutations in key genes of the hematopoietic, and occasionally non-hematopoietic, systems. Read More

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October 2020

[Inherited lymphoproliferative disorders].

Rinsho Ketsueki 2019 ;60(6):708-715

Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Sante et de la Recherche Medicale UMR 1163.

Lymphoproliferative disorders (LPDs) are caused by dysregulated lymphocyte proliferation and include polyclonal benign and monoclonal malignant diseases. LPDs frequently occur in immunocompromized patients, particularly those with primary immunodeficiency disease (PID), a monogenic disease. PID-associated LPD corresponds to inherited LPD. Read More

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Gastrointestinal: Endoscopic balloon dilations for an intestinal stricture in a patient with X-linked inhibitor of apoptosis deficiency.

J Gastroenterol Hepatol 2019 Nov 7;34(11):1895. Epub 2019 Jun 7.

Department of Gastroenterology and Hepatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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November 2019

Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.

Paediatr Drugs 2019 Jun;21(3):185-193

University of Trieste, Trieste, Italy.

Background: It has been 15 years since sirolimus, an mTOR inhibitor, received Food and Drug Administration approval to prevent acute rejection in kidney transplantation, and 8 years since its analog everolimus acquired the same status. Since then, these drugs have become more and more utilized and their immunosuppressive and antiproliferative properties have been tested in a great variety of clinical conditions, often achieving excellent results. Despite such positive evidence, the on-label indications for these rapalogs are still very restrictive, especially in children. Read More

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Disturbances in NK Cells in Various Types of Hemophagocytic Lymphohistiocytosis in a Population of Polish Children.

J Pediatr Hematol Oncol 2019 07;41(5):e277-e283

Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Warsaw, Poland.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease associated with immune system hyperactivation and the appearance of serious systemic disturbances. The purpose of this study was an assessment of natural killer (NK) cell disturbances in a group of children with clinical signs of HLH. A total of 43 children with HLH and 17 healthy children were enrolled in the study. Read More

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X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.

J Neuropathol Exp Neurol 2019 05;78(5):460-466

Department of Neurology, Mayo Clinic, Jacksonville, Florida.

Pathogenic hemizygous variants in the SH2D1A gene cause X-linked lymphoproliferative (XLP) syndrome, a rare primary immunodeficiency usually associated with fatal Epstein-Barr virus infection. Disease onset is typically in early childhood, and the average life expectancy of affected males is ∼11 years. We describe clinical, radiographic, neuropathologic, and genetic features of a 49-year-old man presenting with central nervous system vasculitis that was reminiscent of adult primary angiitis but which was unresponsive to treatment. Read More

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Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic Mutation.

Front Pediatr 2019 4;7:15. Epub 2019 Feb 4.

Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoproliferative syndrome, which is confirmed to have vulnerability to EBV infection. In contrast, EBV infects T cells (CD4 T, CD8 T, and γδT) or NK cells mono- or oligoclonally in CAEBV patients. Read More

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February 2019

Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review.

Pediatr Blood Cancer 2019 05 29;66(5):e27619. Epub 2019 Jan 29.

Department of Hematology, Children's Hospital of Orange County, Orange, California.

An array of monogenic immune defects marked by autoimmunity, lymphoproliferation, and hyperinflammation rather than infections have been described. Primary immune regulatory disorders pose a challenge to pediatric hematologists and oncologists. This paper focuses on primary immune regulatory disorders including autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like syndromes, immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like disorders, common variable immunodeficiency (CVID), CVID-like, and late-onset combined immunodeficiency (CID) disorders. Read More

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An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection.

J Pediatr Hematol Oncol 2019 Nov;41(8):e538-e541

Departments of Pediatrics.

X-linked lymphoproliferative syndrome type 1 (XLP1) is a rare congenital immunodeficiency disease. We report the case of an 18-year-old male who developed hemophagocytic lymphohistiocytosis (HLH) with neurologic complications after primary Epstein-Barr virus (EBV) infection and subsequently developed EBV-related central nervous system lymphoma (CNSL). Given the vulnerability to EBV, he was finally diagnosed with XLP1 and treated with whole-brain irradiation along with chemotherapy and subsequent allogeneic hematopoietic stem cell transplantation from a SH2D1A wild-type sibling donor. Read More

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November 2019

XIAP deficiency in hematopoietic recipient cells drives donor T-cell activation and GvHD in mice.

Eur J Immunol 2019 03 3;49(3):504-507. Epub 2019 Jan 3.

Medizinische Klinik III, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.

Patients with X-linked lymphoproliferative syndrome type 2 (XLP-2) (BIRC4 deficiency) suffer from hyperinflammation often observed during the conditioning regimen prior to allogeneic bone marrow transplant. This article shows that in mice hematopoietic recipient cells contribute to graft-versus-host disease by the secretion of elevated levels of proinflammatory cytokines during engraftment when BIRC4 is absent. Read More

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Hemophagocytic Lymphohistiocytosis: Clinical Presentations and Diagnosis.

J Allergy Clin Immunol Pract 2019 03 14;7(3):824-832. Epub 2018 Dec 14.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:

Hemophagocytic lymphohistiocytosis (HLH) is an overwhelming clinical syndrome associated with extreme immune activation. Familial HLH is caused by autosomal-recessive inheritance of gene mutations that cripple lymphocyte cytotoxicity. X-linked lymphoproliferative diseases and mutations in Nod-like receptor caspase activation and recruitment domain containing protein 4 (NLRC4) also feature HLH as a predominant manifestation. Read More

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