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A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis

scientific article published on 10 September 2020

A Dual Reporter Splicing Assay Using HaloTag-containing Proteins.

artículo científico publicado en 2012

A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease

artículo científico publicado en 2003

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

artículo científico publicado en 2012

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

artículo científico publicado en 2015

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly

artículo científico publicado en 2009

A prospective study of allogeneic hematopoietic stem cell transplantation with post-transplantation cyclophosphamide and anti-thymoglobulin from HLA-mismatched related donors for non-malignant diseases

artículo científico publicado en 2020

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency

artículo científico publicado en 2019

APRIL-dependent life-long plasmacyte maintenance and immunoglobulin production in humans

artículo científico publicado en 2020

Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

artículo científico publicado en 2012

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

artículo científico publicado en 2016

Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection

artículo científico publicado en 2002

Acute Epstein-Barr virus infection presenting as severe gastroenteritis without infectious mononucleosis-like manifestations

artículo científico publicado en 2009

Acute lymphoblastic leukemia after living donor liver transplantation

artículo científico publicado en 2005

Acute promyelocytic leukemia following aleukemic leukemia cutis harboring NPM/RARA fusion gene

artículo científico publicado en 2012

Acute tubulointerstitial nephritis: possible association with cytomegalovirus infection

artículo científico publicado en 2005

Advances in Understanding the Pathogenesis of Epstein-Barr Virus-Associated Lymphoproliferative Disorders

artículo científico publicado en 2015

Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes.

artículo científico publicado en 2014

Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia

artículo científico publicado en 2013

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

artículo científico publicado en 2012

Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency

artículo científico publicado en 2019

Atypical case of X‐linked agammaglobulinemia diagnosed at 45 years of age ⬇️

artículo científico publicado el 1 de agosto de 2011

Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia

artículo científico publicado en 2008

Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection.

artículo científico publicado en 2011

Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis ⬇️

artículo científico publicado el 4 de abril de 2003

B-lymphoblastic lymphoma with fusion gene

article

Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies

artículo científico publicado en 2002

Case of acute cerebellar ataxia associated with primary Epstein–Barr virus infection ⬇️

artículo científico publicado el 1 de agosto de 2010

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

artículo científico publicado en 2014

Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2.

artículo científico publicado en 2012

Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis.

artículo científico publicado en 2009

Clinical and Immunological Characterization of ICF Syndrome in Japan

artículo científico publicado en 2018

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan

artículo científico publicado en 2006

Clinical and genetic characteristics of XIAP deficiency in Japan

artículo científico publicado en 2012

Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan

artículo científico publicado en 2013

Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis

artículo científico publicado en 2012

Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis

artículo científico publicado en 2010

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

artículo científico publicado en 2010

Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia

artículo científico publicado en 2006

Clinicoepidemiologic status of mother-to-child infections: a nationwide survey in Japan

artículo científico publicado en 2013

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

artículo científico publicado en 2012

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Continuous and high‐dose cytarabine combined chemotherapy in children with down syndrome and acute myeloid leukemia: Report from the Japanese children's cancer and leukemia study group (JCCLSG) AML 9805 down study ⬇️

artículo científico publicado el 30 de diciembre de 2010

Cost-minimization analysis of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency

artículo científico

Cytokine profiles in children with primary Epstein-Barr virus infection

artículo científico publicado en 2013

Cytokine profiles of patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome.

artículo científico publicado en 2012

DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection

scientific article published on 10 September 2020

Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

artículo científico publicado en 2012

Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations

artículo científico publicado en 2007

Discordant endocrinopathy in a sibling with shwachman-diamond syndrome

artículo científico publicado en 2006

Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation ⬇️

artículo científico publicado el 14 de julio de 2011

Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation

artículo científico publicado en 2020

Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome

scientific article published on 01 October 2007

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

artículo científico publicado en 2018

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia

scientific article published on 20 August 2010

Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases

scientific article published on 18 April 2018

Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation

scientific article published on 01 July 2018

ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia

artículo científico publicado en 2010

Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review

scientific article published on 19 December 2019

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

artículo científico publicado en 2011

Early lineage switch in an infant acute lymphoblastic leukemia

artículo científico publicado en 2009

Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients

artículo científico publicado en 2017

Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases

scientific article published on 07 February 2014

Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis.

artículo científico publicado en 2018

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

Epstein-Barr virus (EBV)-associated post-transplantation lymphoproliferative disorder simultaneously affecting both B and T cells after allogeneic bone marrow transplantation

artículo científico publicado en 2003

Epstein-Barr virus-associated T-/natural killer cell lymphoproliferative diseases

artículo científico publicado el 1 de abril de 2003

Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH.

artículo científico publicado en 2007

Extensive serum biomarker analysis in patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome

artículo científico publicado en 2013

Favourable outcomes in children with diffuse large B-cell lymphoma treated by a short-term ALL-like regimen: a report on the NHL960 study from the Japanese Childhood Cancer and Leukemia Study Group

artículo científico publicado en 2008

Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation.

artículo científico publicado en 2003

Flow cytometry-based diagnosis of primary immunodeficiency diseases

artículo científico publicado en 2017

Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome

artículo científico publicado en 2008

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations

artículo científico publicado en 2002

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations ⬇️

artículo científico publicado el 1 de marzo de 2003

Gain-of-function mutation causes human combined immune deficiency

artículo científico publicado en 2018

Ganciclovir therapy for congenital cytomegalovirus infection in six infants

artículo científico publicado en 2005

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

artículo científico publicado en 2011

Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives

artículo científico publicado el 1 de junio de 2011

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.

artículo científico publicado en 2017

Giardiasis in a patient undergoing chemotherapy for retinoblastoma and acute myelogenous leukemia.

artículo científico publicado en 2013

Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction

artículo científico publicado en 2010

HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy.

artículo científico publicado en 2017

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

artículo científico publicado en 2017

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia

scientific article published on 10 September 2020

Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K <delta> Syndrome Type 1.

artículo científico publicado en 2018

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission.

artículo científico publicado en 2018

Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease

artículo científico publicado en 2017

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

scientific article published on 24 July 2019

Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis

scientific article published on 24 August 2011

Hemophagocytic lymphohistiocytosis associated with uncontrolled inflammatory cytokinemia and chemokinemia was caused by systemic anaplastic large cell lymphoma: a case report and review of the literature.

artículo científico publicado en 2008

Hepatocyte growth factor in transient myeloproliferative disorder of Down syndrome

scientific article published on 01 October 2009

Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency

artículo científico publicado en 2021

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

artículo científico publicado en 2018

High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations

article

High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder

scientific article published on 19 March 2020

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

artículo científico publicado en 2014

IPEX syndrome and human Treg cells ⬇️

artículo científico publicado el 1 de enero de 2010

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita

scientific article published on 01 May 2005

Identification of FOXP3-negative regulatory T-like (CD4+CD25+CD127low) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ⬇️

artículo científico publicado el 12 de julio de 2011

Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly

artículo científico publicado en 2006

Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency

scientific article published on 01 July 2003

Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome

scientific article published on 02 April 2019

Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients

scientific article published on 24 May 2003

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia

scientific article published on 01 September 2002

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

artículo científico publicado en 2009

IgA nephropathy associated with X-linked thrombocytopenia

artículo científico publicado en 2004

Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry

artículo científico publicado en 2020

Infliximab reduces the cytokine-mediated inflammation but does not suppress cellular infiltration of the vessel wall in refractory Kawasaki disease

artículo científico publicado en 2009

Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency

artículo científico publicado en 2020

Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency

scientific article published on 18 May 2020

Intracranial calcification in a uremic infant with Wilms' tumor in a solitary kidney

artículo científico publicado en 2012

Intrauterine growth restriction modifies gene expression profiling in cord blood.

artículo científico publicado en 2014

Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy.

artículo científico publicado en 2018

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

artículo científico publicado en 2015

Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials

scientific article published on 10 November 2018

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

artículo científico publicado en 2017

Lymphoproliferative disorders in immunocompromised individuals and therapeutic antibodies for treatment

artículo científico

M-protein-positive chronic active Epstein-Barr virus infection: features mimicking HIV-1 infection

artículo científico publicado en 2009

Maintenance of serum immunoglobulin G antibodies to Epstein-Barr virus (EBV) nuclear antigen 2 in healthy individuals from different age groups in a Japanese population with a high childhood incidence of asymptomatic primary EBV infection

artículo científico publicado en 2004

Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy

artículo científico publicado en 2017

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

artículo científico publicado en 2017

Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia

artículo científico publicado en 2005

Minimal residual disease-based augmented therapy in childhood acute lymphoblastic leukemia: a report from the Japanese Childhood Cancer and Leukemia Study Group

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease

scientific article published on 01 February 2008

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.

artículo científico publicado en 2017

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China

artículo científico publicado en 2008

Mutations in Bruton's tyrosine kinase impair IgA responses

artículo científico publicado en 2015

MxA-based recognition of viral illness in febrile children by a whole blood assay.

artículo científico publicado en 2006

Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis

artículo científico publicado en 2019

Nationwide survey of bisphosphonate therapy for children with reactivated Langerhans cell histiocytosis in Japan

scientific article published on 01 January 2011

Nationwide survey of patients with primary immunodeficiency diseases in Japan.

artículo científico publicado en 2011

Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome

artículo científico publicado en 2013

Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma.

artículo científico publicado en 2014

Neuroblastoma in an XYY male

artículo científico publicado en 2006

Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency

artículo científico publicado en 2013

Neutropenia associated with X-linked Agammaglobulinemia in an Iranian referral center

artículo científico publicado en 2009

Nocturnal enuresis as a first manifestation of acute lymphoblastic leukemia

artículo científico publicado en 2013

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

artículo científico publicado en 2019

Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia

artículo científico publicado en 2002

Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.

artículo científico publicado en 2016

Novel neuroblastoma amplified sequence () mutations in a Japanese boy with fever-triggered recurrent acute liver failure

scientific article published on 07 January 2019

Open heart operation in a child with congenital heart disease and hereditary spherocytosis

artículo científico publicado en 2006

Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan

artículo científico publicado en 2006

Outcome of non-T-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation from family donors in children and adolescents

artículo científico publicado en 2007

Outcome of pediatric patients with Langerhans cell histiocytosis treated with 2 chlorodeoxyadenosine: a nationwide survey in Japan

artículo científico publicado en 2010

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

artículo científico publicado en 2018

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

artículo científico publicado en 2016

Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder

scientific article published on 10 March 2008

Pneumocystis jiroveci pneumonia as an atypical presentation of X-linked agammaglobulinemia

artículo científico publicado en 2009

Pneumothorax in patients with severe combined immunodeficiency

artículo científico publicado en 2014

Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases.

artículo científico publicado en 2017

Predominantly Antibody Deficiency

Preferential expansion of Vgamma9-JgammaP/Vdelta2-Jdelta3 gammadelta T cells in nasal T-cell lymphoma and chronic active Epstein-Barr virus infection

artículo científico publicado en 2003

Prognostic factors for chronic active Epstein-Barr virus infection

artículo científico publicado en 2003

Prognostic factors of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children: report of the Japan Histiocytosis Study Group.

artículo científico publicado en 2014

Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene

artículo científico publicado en 2019

Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection.

artículo científico publicado en 2005

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

artículo científico publicado en 2011

Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia

artículo científico publicado en 2009

RAG1 deficiency may present clinically as selective IgA deficiency

artículo científico publicado en 2015

RAPID: Resource of Asian Primary Immunodeficiency Diseases

artículo científico publicado en 2008

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

artículo científico publicado en 2005

Reactive peripheral blood plasmacytosis in Kawasaki disease

scientific article published on 20 August 2018

Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease

artículo científico publicado en 2015

Relapsed leukemia without peripheral blood abnormalities and clinical symptoms detected on MRI

artículo científico publicado en 2014

Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia

artículo científico publicado en 2007

Risk factors for poor outcome in congenital cytomegalovirus infection and neonatal herpes on the basis of a nationwide survey in Japan

artículo científico publicado en 2013

Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector

artículo científico publicado en 2019

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis

artículo científico publicado en 2012

Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome

artículo científico publicado en 2013

Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome

artículo científico publicado en 2015

Severe combined immunodeficiency: From its discovery to the perspective.

artículo científico publicado en 2017

Severe neutropenia in Japanese patients with x-linked agammaglobulinemia

scientific article published on 01 September 2005

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

artículo científico publicado en 2015

Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture

artículo científico publicado en 2020

Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency

artículo científico publicado en 2012

Successful treatment of very large congenital infantile fibrosarcoma ⬇️

artículo científico publicado el 1 de octubre de 2011

Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines

artículo científico publicado en 2004

Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency

artículo científico publicado en 2013

The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils

artículo científico publicado en 2012

The landscape of somatic mutations in Down syndrome-related myeloid disorders.

artículo científico publicado en 2013

Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group

artículo científico publicado en 2012

Three brothers of X-linked agammaglobulinemia: the relation between phenotype and neutropenia

artículo científico publicado en 2009

Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra® Studies

artículo científico publicado en 2018

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

scientific article published on 06 June 2020

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

scientific article published on 22 March 2019

X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia

artículo científico publicado en 2015

X-linked agammaglobulinemia diagnosed in adulthood: a case report

scientific article published on 01 August 2006

X-linked dyskeratosis congenita in Malaysia.

artículo científico publicado en 2008

X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency

artículo científico publicado en 2005

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

artículo científico publicado en 2010

X-linked lymphoproliferative disease in an adult

artículo científico publicado en 2005

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

scientific article published on 21 November 2019

X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

artículo científico publicado en 2005

X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling

artículo científico publicado en 2004

[Gene diagnosis of X-linked agammaglobulinemia].

artículo científico publicado en 2005

[Immune response to Epstein-Barr virus]

scientific article published on 01 March 2006

[Inherited lymphoproliferative disorders]

artículo científico publicado en 2019

[Intravenous immunoglobulin replacement therapy in X-linked agammaglobulinemia]

scientific article published on 01 August 2002

[Lymphoproliferative disorders caused by hereditary genetic defects]

scientific article published on 01 December 2003

[Primary immunodeficiencies and hematological malignancies]

artículo científico publicado en 2018

[Primary immunodeficiencies--agammaglobulinemia--a new trend in diagnosis and treatment]

scientific article published on 01 June 2010

[Primary immunodeficiency diseases]

artículo científico publicado en 2005

[Progress of diagnosis and treatment of X-linked inhibitor of apoptosis deficiency]

artículo científico publicado en 2012

von Recklinghausen disease in a patient with X-linked agammaglobulinemia

artículo científico publicado en 2002

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