373 results match your criteria Lymphoproliferative Syndrome X-linked


Hemophagocytic Lymphohistiocytosis: Clinical presentations and diagnosis.

J Allergy Clin Immunol Pract 2018 Dec 14. Epub 2018 Dec 14.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. 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 NLRC4 also feature HLH as a predominant manifestation. Read More

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http://dx.doi.org/10.1016/j.jaip.2018.11.050DOI Listing
December 2018

Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1.

Allergy Asthma Clin Immunol 2018 14;14:82. Epub 2018 Nov 14.

1Department of Hematology and Oncology, Children's Cancer Center, Kobe Children's Hospital, Minatojima-Minamimachi 1-6-7, Chuo-ku, Kobe, 650-0047 Japan.

Background: X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immune deficiency, which is caused by gene mutations. XLP1 is commonly associated with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphoma. The only curative treatment for XLP1 is allogeneic hematopoietic cell transplantation. Read More

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http://dx.doi.org/10.1186/s13223-018-0306-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236904PMC
November 2018
4 Reads

Posttransplant recipient-derived CD4 T-cell lymphoproliferative disease in X-linked hyper-IgM syndrome.

Pediatr Blood Cancer 2018 Oct 30:e27529. Epub 2018 Oct 30.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

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http://dx.doi.org/10.1002/pbc.27529DOI Listing
October 2018
1 Read

Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.

J Allergy Clin Immunol 2018 Oct 11. Epub 2018 Oct 11.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.07.044DOI Listing
October 2018
1 Read

Fatal central nervous system lymphocytic vasculitis after treatment for Burkitt lymphoma in a patient with a SH2D1A mutation.

Pediatr Infect Dis J 2018 Aug 22. Epub 2018 Aug 22.

Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.

Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. We report a patient carrying a SH2D1A mutation that, after treatment for lymphoma developed fatal CNS vasculitis. He lacked signs of ongoing EBV infection. Read More

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http://dx.doi.org/10.1097/INF.0000000000002154DOI Listing
August 2018
4 Reads

Unique BIR domain sets determine inhibitor of apoptosis protein-driven cell death and NOD2 complex signal specificity.

Sci Signal 2018 Jul 17;11(539). Epub 2018 Jul 17.

Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH 44122, USA.

The mammalian IAPs, X-linked inhibitor of apoptosis protein (XIAP) and cellular inhibitor of apoptosis protein 1 and 2 (cIAP1 and cIAP2), play pivotal roles in innate immune signaling and inflammatory homeostasis, often working in parallel or in conjunction at a signaling complex. IAPs direct both nucleotide-binding oligomerization domain-containing 2 (NOD2) signaling complexes and cell death mechanisms to appropriately regulate inflammation. Although it is known that XIAP is critical for NOD2 signaling and that the loss of cIAP1 and cIAP2 blunts NOD2 activity, it is unclear whether these three highly related proteins can compensate for one another in NOD2 signaling or in mechanisms governing apoptosis or necroptosis. Read More

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http://dx.doi.org/10.1126/scisignal.aao3964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066185PMC
July 2018
1 Read

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.

Gastroenterology 2018 07 9;155(1):231-234. Epub 2018 Jun 9.

Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Oxford, UK; Translational Gastroenterology Unit, Experimental Medicine Division, Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1053/j.gastro.2018.03.069DOI Listing
July 2018
6 Reads

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.

Front Immunol 2018 14;9:694. Epub 2018 May 14.

The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia.

Background: Predominantly antibody deficiencies (PADs) are the most common type of primary immunodeficiency in adults. PADs frequently pass undetected leading to delayed diagnosis, delayed treatment, and the potential for end-organ damage including bronchiectasis. In addition, PADs are frequently accompanied by comorbid autoimmune disease, and an increased risk of malignancy. Read More

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http://dx.doi.org/10.3389/fimmu.2018.00694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960671PMC
May 2018
8 Reads

[Rheumatological manifestations in primary immunodeficiency diseases].

Orv Hetil 2018 Jun;159(23):919-928

Klinikai Immunológiai, Felnőtt- és Gyermekreumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet Budapest, Frankel Leó út 38-40., 1023.

Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Read More

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http://dx.doi.org/10.1556/650.2018.31084DOI Listing
June 2018
2 Reads

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Int J Hematol 2018 Sep 18;108(3):319-328. Epub 2018 May 18.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Read More

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http://dx.doi.org/10.1007/s12185-018-2475-6DOI Listing
September 2018
14 Reads

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.

Front Immunol 2018 4;9:666. Epub 2018 Apr 4.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein-Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, , has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Read More

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893764PMC
April 2018
7 Reads

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.

BMC Med Genet 2018 Apr 12;19(1):60. Epub 2018 Apr 12.

Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, 450000, Henan, China.

Background: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25.

Case Presentation: We report a case of an 18-month-old male with a novel nonsense mutation in SH2D1A. Read More

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http://dx.doi.org/10.1186/s12881-018-0576-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897942PMC
April 2018
2 Reads

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.

World J Gastroenterol 2018 Mar;24(9):1035-1045

Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, Zhejiang Province, China.

Aim: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically genetic testing.

Methods: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing. Read More

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http://dx.doi.org/10.3748/wjg.v24.i9.1035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840468PMC
March 2018
5 Reads

IL-6 receptor blockade corrects defects of XIAP-deficient regulatory T cells.

Nat Commun 2018 01 31;9(1):463. Epub 2018 Jan 31.

Institute of Molecular Biology, Academia Sinica, Academia Sinica, Taipei, 11529, Taiwan.

X-linked lymphoproliferative syndrome type-2 (XLP-2) is a primary immunodeficiency disease attributed to XIAP mutation and is triggered by infection. Here, we show that mouse Xiap regulatory T (Treg) cells and human XIAP-deficient Treg cells are defective in suppressive function. The Xiap Treg cell defect is linked partly to decreased SOCS1 expression. Read More

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http://dx.doi.org/10.1038/s41467-018-02862-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792625PMC
January 2018
3 Reads

[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].

Zhonghua Er Ke Za Zhi 2018 Jan;56(1):48-52

Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen 518038, China.

To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN). Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene'or'XMEN'. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.01.013DOI Listing
January 2018
6 Reads

Flow Cytometry Assays in Primary Immunodeficiency Diseases.

Methods Mol Biol 2018 ;1678:321-345

Departments of Pathology and Pediatrics, Children's Hospital of Los Angeles and the Keck School of Medicine, U. of Southern California, 4650 Sunset Blvd., MS #43, Los Angeles, CA, 90027, USA.

Inborn errors of immunity are the cause of the primary immunodeficiency diseases, an extremely diverse group of genetic defects that are inherited in Mendelian fashion and result in the impairment of development and/or function of key components of the immune system. Since the last publication of this chapter in 2011, there have been approximately 100 new primary immunodeficiency diseases officially classified by the "Expert Committee for Primary Immunodeficiency" who met in 2015 and the numbers will continue to rise with the continued evolution and widespread adoption of genomic technologies. The ultimate diagnostic modality involves the identification of a mutation in a gene whose product is known to be involved in immunity. Read More

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http://dx.doi.org/10.1007/978-1-4939-7346-0_14DOI Listing
June 2018
2 Reads

X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.

J Pediatr Hematol Oncol 2017 Nov;39(8):e483-e485

*Department of Immunology, Hematology and Immunology Unit. Hospital Universitario Puerta del Mar (HUPM) †Department of Hematology, Hematology and Immunology Unit. HUPM ‡Pediatric Intensive Care Department, Pediatrics Unit. HUPM. Cádiz, Spain.

Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. Read More

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http://dx.doi.org/10.1097/MPH.0000000000000938DOI Listing
November 2017
8 Reads

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Front Immunol 2017 27;8:737. Epub 2017 Jun 27.

Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut Pasteur de Tunis, Tunis, Tunisia.

During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Read More

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http://dx.doi.org/10.3389/fimmu.2017.00737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485821PMC
June 2017
11 Reads

Flow cytometry-based diagnosis of primary immunodeficiency diseases.

Allergol Int 2018 Jan 3;67(1):43-54. Epub 2017 Jul 3.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Read More

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http://dx.doi.org/10.1016/j.alit.2017.06.003DOI Listing
January 2018
42 Reads

Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.

J Biol Chem 2017 06 12;292(23):9666-9679. Epub 2017 Apr 12.

From the Departments of Pathology and

The X-linked inhibitor of apoptosis (XIAP) protein has been identified as a key genetic driver of two distinct inflammatory disorders, X-linked lymphoproliferative syndrome 2 (XLP-2) and very-early-onset inflammatory bowel disease (VEO-IBD). Molecularly, the role of XIAP mutations in the pathogenesis of these disorders is unclear. Recent work has consistently shown XIAP to be critical for signaling downstream of the Crohn's disease susceptibility protein nucleotide-binding oligomerization domain-containing 2 (NOD2); however, the reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been inconsistent. Read More

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http://dx.doi.org/10.1074/jbc.M117.781500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465490PMC
June 2017
6 Reads

Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.

J Pediatr Hematol Oncol 2017 05;39(4):e203-e206

*Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus †Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia.

Background: X-linked lymphoproliferative disease type I (XLP I) is caused by mutations in the SH2D1A gene and characterized mainly by hypogammaglobulinemia and abnormal response to Epstein-Barr virus with a high predisposition to B-cell non-Hodgkin lymphoma development.

Observations: In this article, we describe the experience of 2 centers in Belarus and in Russia that follow 3 male patients who were diagnosed with XLP I after lymphoma development and treatment. Three novel mutations c. Read More

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http://dx.doi.org/10.1097/MPH.0000000000000815DOI Listing
May 2017
16 Reads

The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.

Turk Pediatri Ars 2016 Dec 1;51(4):186-192. Epub 2016 Dec 1.

Department of Peditarics, Division of Allergy and Immunology, Marmara University Pendik Training and Research Hospital, İstanbul, Turkey.

Aim: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency. Read More

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http://dx.doi.org/10.5152/TurkPediatriArs.2016.3928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242245PMC
December 2016
8 Reads

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

Allergy Asthma Clin Immunol 2016 7;12:65. Epub 2016 Dec 7.

Department of Virology and Immunology, LabPLUS, Auckland City Hospital, Grafton, Auckland, 1148 New Zealand.

Background And Purpose: New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Read More

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http://dx.doi.org/10.1186/s13223-016-0169-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142146PMC
December 2016
2 Reads

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.

J Clin Immunol 2017 01 4;37(1):85-91. Epub 2016 Nov 4.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Background: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH.

Aim: To investigate the outcomes and adverse events of HSCT for patients with XIAP deficiency, a national survey was conducted. Read More

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http://dx.doi.org/10.1007/s10875-016-0348-4DOI Listing
January 2017
5 Reads

Loss of XIAP facilitates switch to TNFα-induced necroptosis in mouse neutrophils.

Cell Death Dis 2016 10 13;7(10):e2422. Epub 2016 Oct 13.

Institute of Pharmacology, University of Bern, Bern, Switzerland.

Neutrophils are essential players in the first-line defense against invading bacteria and fungi. Besides its antiapoptotic role, the inhibitor of apoptosis protein (IAP) family member X-linked IAP (XIAP) has been shown to regulate innate immune signaling. Whereas the role of XIAP in innate signaling pathways is derived mostly from work in macrophages and dendritic cells, it is not known if and how XIAP contributes to these pathways in neutrophils. Read More

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http://dx.doi.org/10.1038/cddis.2016.311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133978PMC
October 2016
4 Reads

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.

BMJ Case Rep 2016 Sep 28;2016. Epub 2016 Sep 28.

Aarhus University Hospital, Aarhus N, Denmark.

A 16-year-old boy of Caucasian ethnicity was evaluated for recurrent febrile episodes occurring during most of his life without establishment of any microbial aetiology. During febrile episodes he developed extensive splenomegaly, lymphadenopathy, anaemia, severe abdominal pain and general malaise. Lymph node biopsies demonstrated inflammation and sinus histiocytosis but no malignancy or granuloma. Read More

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http://dx.doi.org/10.1136/bcr-2016-216922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051366PMC
September 2016
9 Reads

Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report.

Exp Ther Med 2016 Sep 4;12(3):1341-1344. Epub 2016 Jul 4.

Department of Pediatric Hematology and Oncology, West China Second University Hospital of Sichuan University, Chengdu, Sichuan 610041, P.R. China.

X-linked inhibitor of apoptosis (XIAP) deficiency, also known as X-linked lymphoproliferative syndrome type 2 (XLP2), is a rare inherited primary immunodeficiency resulting from the (also known as ) mutation. XIAP deficiency is mainly associated with familial hemophagocytic lymphohistiocytosis (HLH) phenotypes, and genetic testing is crucial in diagnosing this syndrome. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only successful strategy for the treatment of this disease; however, a limited number of studies has been published concerning the outcomes of allogeneic HSCT in patients with XIAP deficiency. Read More

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http://dx.doi.org/10.3892/etm.2016.3498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998177PMC
September 2016
3 Reads

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.

J Clin Immunol 2016 10 5;36(7):733-8. Epub 2016 Aug 5.

Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Queen's University Belfast, Belfast, UK.

The X-linked inhibitor of apoptosis (XIAP) deficiency is a primary immunodeficiency characterized by Epstein-Barr virus (EBV)-driven hemophagocytic lymphohistiocytosis (HLH), splenomegaly, and colitis. Here, we present, for the first time, granulomatous hepatitis and granulomatous and lymphocytic interstitial lung disease (GLILD) as manifestations of XIAP deficiency. We report successful treatment of GLILD in XIAP deficiency with rituximab and azathioprine and discuss the role of XIAP deficiency in immune dysregulation. Read More

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http://dx.doi.org/10.1007/s10875-016-0320-3DOI Listing
October 2016
8 Reads
2 Citations
3.184 Impact Factor

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Hum Immunol 2016 Aug 8;77(8):658-666. Epub 2016 Jun 8.

Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address:

Background: X-linked lymphoproliferative disease (XLP) is a rare life-threatening syndrome. Rapid recognition and definitive diagnosis are critical to improve the prognosis and survival of patients with XLP. Nowadays, little is known about patients with XLP in China. Read More

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http://dx.doi.org/10.1016/j.humimm.2016.06.005DOI Listing
August 2016
2 Reads

CRISPR-Mediated Triple Knockout of SLAMF1, SLAMF5 and SLAMF6 Supports Positive Signaling Roles in NKT Cell Development.

PLoS One 2016 3;11(6):e0156072. Epub 2016 Jun 3.

Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

The SLAM family receptors contribute to diverse aspects of lymphocyte biology and signal via the small adaptor molecule SAP. Mutations affecting SAP lead to X-linked lymphoproliferative syndrome Type 1, a severe immunodysregulation characterized by fulminant mononucleosis, dysgammaglobulinemia, and lymphoproliferation/lymphomas. Patients and mice having mutations affecting SAP also lack germinal centers due to a defect in T:B cell interactions and are devoid of invariant NKT (iNKT) cells. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0156072PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892526PMC
July 2017
16 Reads

Primary immunodeficiencies associated with eosinophilia.

Allergy Asthma Clin Immunol 2016 24;12:27. Epub 2016 May 24.

Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G-1X8 Canada.

Background: Eosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. Read More

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http://dx.doi.org/10.1186/s13223-016-0130-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878059PMC
May 2016
9 Reads

[X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation: case report and literature review].

Zhonghua Er Ke Za Zhi 2016 Apr;54(4):290-3

Department of Hematology and Oncology, Nephropathy, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.

Objective: To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferative syndrome type 1 (XLP-1).

Method: A retrospective study was done in 2012 on an XLP-1 patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word"X-linked lymphoproliferative syndrome". Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2016.04.013DOI Listing
April 2016
6 Reads

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Exp Clin Transplant 2017 Jun 21;15(3):337-343. Epub 2016 Mar 21.

From the Department of Pediatric Immunology, and the Department of Pediatric Hematology and Oncology, Erciyes University School of Medicine, Kayseri, Turkey.

Objectives: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases.

Materials And Methods: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015. Read More

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http://dx.doi.org/10.6002/ect.2015.0233DOI Listing
June 2017
9 Reads

Poor growth, thyroid dysfunction and vitamin D deficiency remain prevalent despite reduced intensity chemotherapy for hematopoietic stem cell transplantation in children and young adults.

Bone Marrow Transplant 2016 Jul 14;51(7):980-4. Epub 2016 Mar 14.

Division of Endocrinology, Department of Pediatrics, Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Myeloablative conditioning regimens for hematopoietic stem cell transplant (HSCT) are known to affect endocrine function, but little is known regarding reduced intensity conditioning (RIC) regimens. We retrospectively reviewed 114 children and young adults after single RIC HSCT. The analysis was grouped by age (<2 and ⩾2 years) and diagnosis (hemophagocytic lymphohistiocystosis/X-linked lymphoproliferative syndrome (HLH/XLP), other immune disorders, metabolic/genetic disorders). Read More

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http://www.nature.com/articles/bmt201639
Publisher Site
http://dx.doi.org/10.1038/bmt.2016.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935546PMC
July 2016
4 Reads

Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.

Blood 2016 05 22;127(21):2513-22. Epub 2016 Feb 22.

Center for Immunity and Immunotherapies and Program for Cell and Gene Therapy, Seattle Children's Research Institute, Seattle, WA; and Department of Pediatrics and.

Loss of CD40 ligand (CD40L) expression or function results in X-linked hyper-immunoglobulin (Ig)M syndrome (X-HIGM), characterized by recurrent infections due to impaired immunoglobulin class-switching and somatic hypermutation. Previous attempts using retroviral gene transfer to correct murine CD40L expression restored immune function; however, treated mice developed lymphoproliferative disease, likely due to viral-promoter-dependent constitutive CD40L expression. These observations highlight the importance of preserving endogenous gene regulation in order to safely correct this disorder. Read More

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http://dx.doi.org/10.1182/blood-2015-11-683235DOI Listing
May 2016
13 Reads

Intact Regulatory T-Cell Function but Defective Generation of IL-17A-Producing CD4+ T Cells in XIAP Deficiency.

J Pediatr Gastroenterol Nutr 2016 08;63(2):218-25

*Department of Pediatrics, Division of Gastroenterology †Department of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee ‡Pediatric Rheumatology Division, University of Wisconsin School of Medicine and Public health, Madison §Department of Pediatrics, Section of Quantitative Health Sciences, Medical College of Wisconsin, Milwaukee.

Objective: X-linked inhibitor of apoptosis (xIAP) deficiency is a primary immune deficiency disorder associated with hemophagocytic lymphohistiocytosis. About 17% of xIAP-deficient patients present with very early onset severe colitis with high mortality. We hypothesized that xIAP deficiency leads to defective generation and/or survival of T regulatory cells (Treg) through its involvement in transforming growth factor-β signaling. Read More

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http://Insights.ovid.com/crossref?an=00005176-201608000-0001
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http://dx.doi.org/10.1097/MPG.0000000000001122DOI Listing
August 2016
6 Reads

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.

BMC Pediatr 2015 Dec 15;15:208. Epub 2015 Dec 15.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

Background: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT).

Case Presentation: We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly. Read More

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http://dx.doi.org/10.1186/s12887-015-0522-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678727PMC
December 2015
10 Reads

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC Gastroenterol 2015 Nov 18;15:160. Epub 2015 Nov 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

Background: Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD. Read More

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http://dx.doi.org/10.1186/s12876-015-0394-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652404PMC
November 2015
19 Reads

BIRC4 Mutation: An Important Rare Cause of Uveitis.

J Clin Rheumatol 2015 Dec;21(8):444-7

From the Division of Rheumatology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

We report a 6-year-old man with chronic severe recalcitrant bilateral anterior uveitis and a remote history of hemophagocytic lymphocytic histiocytosis secondary to Epstein-Barr virus infection. The patient was treated for idiopathic uveitis after an initial extensive evaluation failed to reveal a specific diagnosis. The patient failed to achieve sustained inactive disease with multiple monotherapies including topical glucocorticoid, methotrexate, infliximab, mycophenolate mofeti, and cyclosporine. Read More

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http://dx.doi.org/10.1097/RHU.0000000000000327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654974PMC
December 2015
10 Reads

The autoimmune conundrum in common variable immunodeficiency disorders.

Curr Opin Allergy Clin Immunol 2015 Dec;15(6):514-24

aDivision of Internal Medicine and Dermatology, University Medical Center Utrecht, Utrecht, the Netherlands bCenter for Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Freiburg, Germany.

Purpose Of Review: Autoimmune and inflammatory manifestations are the biggest clinical challenge in the care of patients with common variable immunodeficiency (CVID). The increasing pathogenic knowledge and potential therapeutic implications require a new evaluation of the status quo. (Figure is included in full-text article. Read More

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http://dx.doi.org/10.1097/ACI.0000000000000218DOI Listing
December 2015
2 Reads

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

J Clin Immunol 2015 Oct 3;35(7):604-9. Epub 2015 Oct 3.

Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Randwick, Australia.

Unlabelled: Vasculitis occurs rarely in association with X-linked lymphoproliferative disease (XLP). There are four published cases of non-EBV XLP-associated cerebral vasculitis reported, none of whom have survived without major cognitive impairment.

Case: A 9-year old boy initially presented aged 5 years with a restrictive joint disease. Read More

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http://dx.doi.org/10.1007/s10875-015-0194-9DOI Listing
October 2015
9 Reads

Successful Allogeneic Hematopoietic Stem Cell Transplantation in XIAP Deficiency Using Reduced-Intensity Conditioning.

Pediatr Blood Cancer 2016 Feb 23;63(2):355-7. Epub 2015 Sep 23.

Division of Hematology/Oncology/BMT, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.

Hematopoietic stem cell transplantation (HSCT) is currently the only available curative therapy for X-linked inhibitor of apoptosis (XIAP) deficiency. Myeloablative conditioning regimens are associated with high mortality rates. Reduced-intensity conditioning (RIC) is recommended in order to decrease treatment-related toxicities, but RIC regimens increase the risk for mixed donor-recipient chimerism that may progress to graft loss. Read More

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http://dx.doi.org/10.1002/pbc.25756DOI Listing
February 2016
4 Reads

Human Immunodeficiencies Related to Defective APC/T Cell Interaction.

Front Immunol 2015 28;6:433. Epub 2015 Aug 28.

Cellular Immunology, International Centre for Genetic Engineering and Biotechnology , Trieste , Italy.

The primary event for initiating adaptive immune responses is the encounter between T lymphocytes and antigen presenting cells (APCs) in the T cell area of secondary lymphoid organs and the formation of highly organized intercellular junctions referred to as immune synapses (IS). In vivo live-cell imaging of APC-T cell interactions combined to functional studies unveiled that T cell fate is dictated, in large part, by the stability of the initial contact. Immune cell interaction is equally important during delivery of T cell help to B cells and for the killing of target cells by cytotoxic T cells and NK cells. Read More

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http://dx.doi.org/10.3389/fimmu.2015.00433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551858PMC
September 2015
10 Reads

Autoimmunity and Immune Dysregulation in Primary Immune Deficiency Disorders.

Authors:
Heather K Lehman

Curr Allergy Asthma Rep 2015 Sep;15(9):53

Division of Allergy, Immunology and Pediatric Rheumatology, Department of Pediatrics, Women's and Children's Hospital of Buffalo, SUNY at Buffalo, School of Medicine and Biomedical Sciences, 219 Bryant Street, Buffalo, NY, 14222, USA,

Primary immune deficiencies are often associated with autoimmune disease due to the dysregulation of the immune system as a whole. In many immune deficiencies, lymphocytes may be present but dysfunctional, allowing for the development of excessive autoreactivity and resultant autoimmune disease. Autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, autoimmune lymphoproliferative syndrome, immunodyregulation polyendocrinopathy enteropathy X-linked, IL-10/IL-10 receptor deficiencies, and PLCG2-associated antibody deficiency and immune dysregulation are disorders in which autoimmunity is a hallmark of the clinical disease presentation. Read More

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http://dx.doi.org/10.1007/s11882-015-0553-xDOI Listing
September 2015
2 Reads

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.

Immunol Allergy Clin North Am 2015 Aug;35(3):523-44

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 12C103, Bethesda, MD 20892, USA. Electronic address:

Increased serum eosinophil levels have been associated with multiple disorders of immune deficiency or immune dysregulation. Although primary immunodeficiency diseases are rare, it is important to consider these in the differential diagnosis of patients with eosinophilia. In this review, the clinical features, laboratory findings, diagnosis, and genetic basis of disease of several disorders of immune deficiency or dysregulation are discussed. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08898561150003
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http://dx.doi.org/10.1016/j.iac.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4688016PMC
August 2015
3 Reads

Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

J Investig Allergol Clin Immunol 2015 ;25(3):205-13

Background: X-linked lymphoproliferative syndrome type 2 is a rare hereditary immunodeficiency caused by mutations in the XIAP gene. This immunodeficiency frequently results in hemophagocytic lymphohistiocytosis, although hypogammaglobulinemia and dysgammaglobulinemia are also common.

Objective: We identified 17 patients from 12 Japanese families with mutations in XIAP. Read More

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August 2015
19 Reads

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Haematologica 2015 Jul 28;100(7):978-88. Epub 2015 May 28.

Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany

Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. Read More

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http://dx.doi.org/10.3324/haematol.2014.121608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486233PMC
July 2015
32 Reads

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

Clin Immunol 2015 Jul 6;159(1):58-62. Epub 2015 May 6.

Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey.

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http://dx.doi.org/10.1016/j.clim.2015.04.015DOI Listing
July 2015
5 Reads

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

J Clin Immunol 2015 Jul 6;35(5):439-44. Epub 2015 May 6.

Department of Immunology, Institute of Immunology and Transplantation, Royal Free Hospital, London, UK.

Purpose: X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was originally described in male patients with X-linked lymphoproliferative syndrome type 2 (XLP2). Recent observations have highlighted a critical role of XIAP for the regulation of NOD2 signaling and are probably the molecular basis for increasingly recognized further immune dysregulatory symptoms of XIAP deficient patients, such as inflammatory bowel disease (IBD). We describe a large Caucasian family in which IBD and erythema nodosum (EN) also manifested in female carriers of XIAP mutations. Read More

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http://dx.doi.org/10.1007/s10875-015-0166-0DOI Listing
July 2015
11 Reads