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List of works by Tomohiro Morio

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

scientific article published on 16 August 2017

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

scientific article

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

scientific article

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

scientific article published on 21 February 2017

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

scientific article published on 7 April 2016

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

scientific article

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

scientific article published on 3 September 2009

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

scientific article published on 21 June 2021

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

scientific article

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

scientific article published in December 2016

Acute cerebellitis and concurrent encephalitis associated with parvovirus B19 infection.

scientific article published in April 2012

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

scientific article published on 17 November 2011

Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency

scientific article published on 10 January 2018

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

scientific article published on 13 February 2016

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

scientific article published on February 1, 2013

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

scientific article published on 4 November 2016

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

scientific article

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

scientific article published on 11 November 2016

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

scientific article published in June 2005

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

scientific article

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

scientific article

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

scientific article published on 15 April 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.

scientific article published in February 2008

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

scientific article

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

scientific article

Ataxia-telangiectasia: Immunodeficiency and survival

scientific article published on 23 January 2017

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

scientific article published on 13 February 2019

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.

scientific article

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

scientific article published on 10 November 2017

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

scientific article published on 20 January 2010

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

scientific article published on 30 June 2020

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

scientific article published on 17 August 2013

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

scientific article

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

scientific article

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

scientific article published on March 2009

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

scientific article published on 08 August 2017

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

scientific article

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

scientific article published in January 2003

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

scientific article published on 28 February 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.

scientific article published on 05 October 2009

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

scientific article

Clinical course of patients with WASP gene mutations

scientific article

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

scientific article published on 31 March 2015

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

scientific article published in February 2004

Common Variable Immunodeficiency Caused by FANC Mutations

scientific article

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

scientific article published on 28 December 2012

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

scientific article published in January 2012

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

scientific article published on 24 August 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

scientific article published on 18 May 2018

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

scientific article published on 09 April 2007

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

scientific article published on 01 January 2020

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

scientific article published in April 2014

DNA damage check points prevent leukemic transformation in myelodysplastic syndrome

scientific article published on 10 May 2007

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

scientific article published on 01 November 1996

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

scientific article

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.

scientific article published on 14 September 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.

scientific article published in October 2013

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

scientific article published on 3 May 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

scientific article

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

scientific article published on 9 September 2017

Endocrine complications in primary immunodeficiency diseases in Japan.

scientific article published in October 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.

scientific article

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

scientific article published on 01 September 1991

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

scientific article

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

scientific article published in November 2009

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

scientific article published on July 2009

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

scientific article published on 22 January 2014

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

scientific article published on 22 November 2012

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

scientific article published on 01 December 2009

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

scientific article published on 28 October 2005

Flow cytometry-based diagnosis of primary immunodeficiency diseases

scientific article

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

scientific article published on 9 November 2011

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.

scientific article published on 29 September 2017

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

scientific article published on June 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.

scientific article published on 9 February 2017

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

scientific article

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

scientific article published on 11 December 2017

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

scientific article published on 11 November 2016

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

scientific article

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene

scientific article

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

scientific article

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

scientific article

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

scientific article published in March 2006

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

scientific article

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

scientific article published on 28 November 2017

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

scientific article published on 07 June 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

scientific article published on 5 September 2006

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

scientific article published on 01 June 2021

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

scientific article

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

scientific article published on 01 January 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

scientific article

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

scientific article published in October 2007

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

scientific article

Immunologically silent cancer clone transmission from mother to offspring

scientific article

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

scientific article

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.

scientific article published on 5 February 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.

scientific article published on 11 December 2017

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

scientific article

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

scientific article published in May 2013

IκBζ regulates TH17 development by cooperating with ROR nuclear receptors

scientific article published in Nature

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

scientific article published in February 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

scientific article published on 24 December 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

scientific article published on 12 May 2015

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

scientific article published on 19 August 2016

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

scientific article

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

scientific article

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

scientific article published on 2 August 2017

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

scientific article published on 16 June 2017

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

scientific article published on 6 May 2014

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

scientific article published on 9 February 2017

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.

scientific article published on 8 June 2017

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

scientific article published on 20 April 2017

Mutations in Bruton's tyrosine kinase impair IgA responses

scientific article published on 15 January 2015

Myhre syndrome: Age-dependent progressive phenotype

scientific article published on 01 November 2017

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

scientific article

Nationwide survey of patients with primary immunodeficiency diseases in Japan.

scientific article published on 29 September 2011

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

scientific article published on 15 December 2015

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

scientific article published on 11 July 2015

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

scientific article published on 4 September 2016

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

scientific article

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

scientific article published on June 2006

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

scientific article published on 01 November 2006

Palivizumab use in Japanese infants and children with immunocompromised conditions.

scientific article published on November 2014

Pancytopenia presenting with monosomy 7 which disappeared after immunosuppressive therapy.

scientific article published in March 2004

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

scientific article published on 30 January 2018

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

scientific article published on 24 January 2018

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

scientific article

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

scientific article published on 29 June 2016

Pneumothorax in patients with severe combined immunodeficiency

scientific article published on 30 May 2014

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

scientific article published on 27 October 2017

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

scientific article published on 23 March 2018

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

scientific article

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

scientific article published on 18 June 2012

Prognostic factors for chronic active Epstein-Barr virus infection

scientific article

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

scientific article published in December 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.

scientific article

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

scientific article published on 01 January 1999

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

scientific article published on 24 July 2010

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

scientific article

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

scientific article published in November 2008

RAG1 deficiency may present clinically as selective IgA deficiency

scientific article published on 6 March 2015

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

scientific article

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

scientific article published on 17 July 2008

Recent advances in the study of immunodeficiency and DNA damage response

scientific article

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

scientific article published on 07 February 2014

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

scientific article

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

scientific article

Secondary immune thrombocytopenia associated with primary immunodeficiency

scientific article published on April 1, 2013

Severe combined immunodeficiency: From its discovery to the perspective.

scientific article

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

scientific article

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

scientific article published on 16 December 2013

Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency

scientific article published on 8 August 2017

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

scientific article published on 05 July 2018

Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis

scientific article published in February 2016

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

scientific article

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.

scientific article published in December 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.

scientific article published on 27 November 2015

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

scientific article published on 18 January 2018

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

scientific article published on 25 February 2015

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

scientific article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

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

scientific article published on 18 April 2016

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

scientific article

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

scientific article published on 01 November 2006

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

scientific article published on 29 February 2024

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

scientific article

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

scientific article published on 16 May 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

scientific article published on 07 December 2015

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

scientific article published on 24 April 2018

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

scientific article

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

scientific article published on 25 November 2011

Transient abnormal myelopoiesis in non-Down syndrome neonate

scientific article published in January 2015

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

scientific article published on 16 January 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.

scientific article published on 6 October 2014

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

scientific article published on 2 December 2015

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

scientific article published on 27 December 2017

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

scientific article (publication date: March 2003)

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

scientific article published in March 2008

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

scientific article published on 7 May 2013

Vesical varices and telangiectasias in a patient with ataxia telangiectasia

scientific article

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

scientific article

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

scientific article published on 4 March 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.

scientific article

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

scientific article

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

scientific article

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