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Lista de obras de Tomohiro Morio

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

artículo científico

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty

artículo científico publicado en 2016

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

artículo científico publicado en 2015

A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation

artículo científico publicado en 2017

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

artículo científico publicado en 2016

A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura

artículo científico publicado en 2013

A significant association of viral loads with corneal endothelial cell damage in cytomegalovirus anterior uveitis

artículo científico publicado en 2009

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

artículo científico publicado en 2021

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

Acute cerebellitis and concurrent encephalitis associated with parvovirus B19 infection.

artículo científico publicado en 2012

Alleviation of rheumatoid arthritis by cell-transducible methotrexate upon transcutaneous delivery.

artículo científico publicado en 2011

Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency

artículo científico publicado en 2018

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

Am80, a retinoic acid receptor agonist, ameliorates murine vasculitis through the suppression of neutrophil migration and activation ⬇️

artículo científico publicado el 1 de febrero de 2013

Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation

artículo científico publicado en 2016

Amelioration of neurodegenerative diseases by cell death-induced cytoplasmic delivery of humanin.

artículo científico publicado en 2013

An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus

artículo científico publicado en 2016

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

artículo científico publicado en 2005

Analysis of mutations and recombination activity in RAG-deficient patients.

artículo científico publicado en 2010

Analysis of serum granulysin in patients with hematopoietic stem-cell transplantation: its usefulness as a marker of graft-versus-host reaction.

artículo científico publicado en 2006

Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L

scientific article published on 01 January 2005

Artemis-dependent DNA double-strand break formation at stalled replication forks

artículo científico publicado en 2013

Association of varicella zoster virus load in the aqueous humor with clinical manifestations of anterior uveitis in herpes zoster ophthalmicus and zoster sine herpete.

artículo científico publicado en 2008

Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.

artículo científico publicado en 2005

Ataxia-telangiectasia-mutated-dependent activation of Ku in human fibroblasts exposed to hydrogen peroxide

artículo científico publicado en 2006

Ataxia-telangiectasia: Immunodeficiency and survival

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.

artículo científico publicado en 2010

Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

artículo científico publicado en 2017

Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder.

artículo científico publicado en 2010

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

artículo científico publicado en 2020

B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID.

artículo científico publicado en 2013

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies

artículo científico publicado en 2014

Benzodiazepines induce sequelae in immature mice with inflammation-induced status epilepticus.

artículo científico publicado en 2015

Bilateral anterior granulomatous keratouveitis with sunset glow fundus in a patient with autoimmune polyglandular syndrome.

artículo científico publicado en 2009

Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations

artículo científico

Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease.

artículo científico publicado en 2015

Characterization of Epstein-Barr virus (EBV)-positive NK cells isolated from hydroa vacciniforme-like eruptions.

artículo científico publicado en 2003

Characterization of in vitro expanded virus-specific T cells toward adoptive immunotherapy against virus infection.

artículo científico publicado en 2018

Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)

scientific article published on 01 October 2000

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

artículo científico publicado en 2009

Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR.

artículo científico publicado en 2018

Clinical course of patients with WASP gene mutations

artículo científico publicado en 2003

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.

artículo científico publicado en 2015

Coagulopathy in a patient with X-linked hyper-IgM syndrome who developed Kaposi's sarcoma.

artículo científico publicado en 2004

Common Variable Immunodeficiency Caused by FANC Mutations

artículo científico publicado en 2017

Common variable immunodeficiency

scientific article published on 01 February 2008

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

artículo científico publicado en 2012

Common variable immunodeficiency: an update on etiology, pathophysiology, and classification

artículo científico publicado en 2012

Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases

artículo científico publicado en 2016

Complications of Listeria meningitis in two immunocompetent children

scientific article published on 01 May 2018

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

artículo científico publicado en 2018

Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen

artículo científico publicado en 2007

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

artículo científico publicado en 2020

Current research on chronic active Epstein-Barr virus infection in Japan.

artículo científico publicado en 2014

DNA damage check points prevent leukemic transformation in myelodysplastic syndrome

artículo científico publicado en 2007

Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome

artículo científico publicado en 1996

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

artículo científico publicado en 2017

Differences of LAK-activity and IL-2 responsiveness between alpha/beta and gamma/delta T cells which developed after thymus transplantation

scientific article published on 01 August 1994

Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases

scientific article published on 18 April 2018

EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway.

artículo científico publicado en 2016

Early activation events induced by the staphylococcal superantigen toxic shock syndrome toxin-1 in human peripheral blood monocytes

scientific article published on 01 February 1994

Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience.

artículo científico publicado en 2013

Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion

artículo científico publicado en 2017

Effect of eculizumab and recombinant human soluble thrombomodulin combination therapy in a 7-year-old girl with atypical hemolytic uremic syndrome due to anti-factor H autoantibodies

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Endocrine complications in primary immunodeficiency diseases in Japan.

artículo científico publicado en 2012

Engagement of MHC class II molecules by staphylococcal superantigens activates src-type protein tyrosine kinases

scientific article published on 01 March 1994

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

artículo científico publicado en 2018

Enhancement by transforming growth factor-beta 1 (TGF-beta 1) of the proliferation of leukemic blast progenitors stimulated with IL-3

artículo científico publicado en 1991

Epstein-Barr virus-associated posttransplant lymphoproliferative disorder after a cord blood stem cell transplantation presenting with pulmonary nodules.

artículo científico publicado en 2004

Ex vivo expanded cord blood CD4 T lymphocytes exhibit a distinct expression profile of cytokine-related genes from those of peripheral blood origin.

artículo científico publicado en 2009

Ex vivo-expanded donor CD4(+) lymphocyte infusion against relapsing neuroblastoma: A transient graft-versus-tumor effect.

artículo científico publicado en 2009

FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice

artículo científico publicado en 2014

Failure of mefloquine therapy in progressive multifocal leukoencephalopathy: report of two Japanese patients without human immunodeficiency virus infection

artículo científico publicado en 2012

Fatal degeneration of specialized cardiac muscle associated with chronic active Epstein-Barr virus infection

artículo científico publicado en 2009

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

artículo científico publicado en 2005

Flow cytometry-based diagnosis of primary immunodeficiency diseases

artículo científico publicado en 2017

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

artículo científico publicado en 2011

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.

artículo científico publicado en 2017

Granulocyte colony-stimulating factor-dependent growth of an acute myeloblastic leukemia cell line

artículo científico publicado en 1990

HIV glycoprotein gp120 inhibits TCR-CD3-mediated activation of fyn and lck

scientific article published on 01 January 1997

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

artículo científico publicado en 2017

Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia.

artículo científico publicado en 2016

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

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 X-Linked Thrombocytopenia With Mutations in the WAS gene

artículo científico publicado en 2014

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team.

artículo científico publicado en 2006

Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

artículo científico publicado en 2017

Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses

artículo científico publicado en 2006

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

artículo científico publicado en 2021

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

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

article

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

artículo científico publicado en 2020

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

artículo científico publicado en 2006

Identification of human herpesvirus 6 in a patient with severe unilateral panuveitis.

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Immunologically silent cancer clone transmission from mother to offspring

artículo científico publicado en 2009

Immunosuppressive effects of tautomycetin in vivo and in vitro via T cell-specific apoptosis induction

artículo científico publicado en 2002

Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp.

artículo científico publicado en 2012

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy

scientific article published on 19 June 2015

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation.

artículo científico publicado en 2013

IκBζ regulates TH17 development by cooperating with ROR nuclear receptors

artículo científico publicado en 2010

Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells.

artículo científico publicado en 2007

Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAb

scientific article published on 01 September 1999

Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage

artículo científico publicado en 2007

Long-term complete remission by infusion of ex vivo-expanded donor-derived CD4(+) lymphocytes for treating an early relapse of Hodgkin lymphoma after cord blood transplantation

artículo científico publicado en 2015

Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.

artículo científico publicado en 2016

Lycopene inhibits Helicobacter pylori-induced ATM/ATR-dependent DNA damage response in gastric epithelial AGS cells.

artículo científico publicado en 2011

Macrophage Activation Syndrome in Patients with Systemic Juvenile Idiopathic Arthritis under Treatment with Tocilizumab.

artículo científico publicado en 2015

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

Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency

artículo científico publicado en 2014

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases

artículo científico publicado en 2017

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.

artículo científico publicado en 2017

Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day.

artículo científico publicado en 2017

Mutations in Bruton's tyrosine kinase impair IgA responses

artículo científico publicado en 2015

Myhre syndrome: Age-dependent progressive phenotype

artículo científico publicado en 2017

NADPH oxidase and apoptosis in cerulein-stimulated pancreatic acinar AR42J cells.

artículo científico publicado en 2005

Nationwide survey of patients with primary immunodeficiency diseases in Japan.

artículo científico publicado en 2011

Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study

artículo científico publicado en 2015

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Novel mouse xenograft models reveal a critical role of CD4+ T cells in the proliferation of EBV-infected T and NK cells

artículo científico publicado en 2011

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

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

Palivizumab use in Japanese infants and children with immunocompromised conditions.

artículo científico publicado en 2014

Pancytopenia presenting with monosomy 7 which disappeared after immunosuppressive therapy.

artículo científico publicado en 2004

Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age.

artículo científico publicado en 2018

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review

artículo científico publicado en 2018

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

Preclinical evaluation of NUDT15-guided thiopurine therapy and its effects on toxicity and anti-leukemic efficacy.

artículo científico publicado en 2018

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

Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM.

artículo científico publicado en 2012

Prognostic factors for chronic active Epstein-Barr virus infection

artículo científico publicado en 2003

Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation.

artículo científico publicado en 2016

Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome

scientific article published on 01 August 2010

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

artículo científico publicado en 2005

Proposed standard for human blood vitamin B1 value using HPLC. The Committee for Vitamin Laboratory Standards, Japan

artículo científico publicado en 1999

Qualitative and quantitative differences in the intensity of Fas-mediated intracellular signals determine life and death in T cells

artículo científico publicado en 2010

Qualitatively differential regulation of T cell activation and apoptosis by T cell receptor zeta chain ITAMs and their tyrosine residues.

artículo científico publicado en 2004

Quantitative PCR for the detection of genomic DNA of Epstein-Barr virus in ocular fluids of patients with uveitis.

artículo científico publicado en 2008

RAG1 deficiency may present clinically as selective IgA deficiency

artículo científico publicado en 2015

RORγt-specific transcriptional interactomic inhibition suppresses autoimmunity associated with TH17 cells

artículo científico publicado en 2014

Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation

artículo científico publicado en 2008

Recent advances in the study of immunodeficiency and DNA damage response

artículo científico publicado en 2017

Recurrent mitral valve regurgitation with neutrophil infiltration in a patient with multiple aseptic abscesses

artículo científico publicado en 2014

Report of the international conference on regulatory endeavors towards the sound development of human cell therapy products

artículo científico publicado en 2015

Risks and prevention of severe RS virus infection among children with immunodeficiency and Down's syndrome.

artículo científico publicado en 2014

Secondary immune thrombocytopenia associated with primary immunodeficiency

artículo científico publicado el 1 de abril de 2013

Severe combined immunodeficiency: From its discovery to the perspective.

artículo científico publicado en 2017

Signal transduction via CD40 involves activation of lyn kinase and phosphatidylinositol-3-kinase, and phosphorylation of phospholipase C gamma 2

artículo científico publicado en 1994

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency

artículo científico publicado en 2017

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity

artículo científico publicado en 2018

Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis

artículo científico publicado en 2016

Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome

artículo científico publicado en 2016

Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection

scientific article published on 21 October 2011

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

scientific article published on 06 January 2010

Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome.

artículo científico publicado en 2004

Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4+ lymphocytes derived from the recipient's peripheral blood donor cells.

artículo científico publicado en 2015

Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan

artículo científico publicado en 2018

TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis

artículo científico publicado en 2015

Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.

artículo científico publicado en 2017

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2017

The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.

artículo científico publicado en 2016

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

artículo científico publicado en 2016

The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation

artículo científico publicado en 2006

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

artículo científico publicado en 2024

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

artículo científico publicado en 2012

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan

artículo científico publicado en 2015

Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.

artículo científico publicado en 2018

Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus

artículo científico publicado en 2014

Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease.

artículo científico publicado en 2011

Transient abnormal myelopoiesis in non-Down syndrome neonate

artículo científico publicado en 2015

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids

artículo científico publicado en 2014

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

artículo científico publicado en 2014

Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy

artículo científico publicado en 2015

Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2.

artículo científico publicado en 2017

Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase

artículo científico publicado el 1 de marzo de 2003

Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals.

artículo científico publicado en 2008

Use of a comprehensive polymerase chain reaction system for diagnosis of ocular infectious diseases.

artículo científico publicado en 2013

Vesical varices and telangiectasias in a patient with ataxia telangiectasia

artículo científico publicado en 2008

WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro.

artículo científico publicado en 1999

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

artículo científico publicado en 2014

Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6.

artículo científico publicado en 2015

Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia

artículo científico publicado en 2012

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

artículo científico publicado en 2010

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