about
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunityWASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro.Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genesX-linked thrombocytopenia in a girl.Clinical course of patients with WASP gene mutations.WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura.Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.Common Variable Immunodeficiency Caused by FANC Mutations.B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair.Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.RAPID: Resource of Asian Primary Immunodeficiency DiseasesRepair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells.Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.AID mutant analyses indicate requirement for class-switch-specific cofactors.Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency.Clinical and genetic characteristics of XIAP deficiency in Japan.Quantitation of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6.Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.Endocrine complications in primary immunodeficiency diseases in Japan.Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience.Analysis of mutations and recombination activity in RAG-deficient patients.Analysis of somatic hypermutations in the IgM switch region in human B cells.Quantitative PCR assay used to monitor serum Trichosporon asahii DNA concentrations in disseminated trichosporonosis.Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH.Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency.Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy.Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab.Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Kohsuke Imai
@ast
Kohsuke Imai
@en
Kohsuke Imai
@es
Kohsuke Imai
@sl
type
label
Kohsuke Imai
@ast
Kohsuke Imai
@en
Kohsuke Imai
@es
Kohsuke Imai
@sl
prefLabel
Kohsuke Imai
@ast
Kohsuke Imai
@en
Kohsuke Imai
@es
Kohsuke Imai
@sl
P1053
Q-2602-2015
P106
P1153
7403639467
P21
P2798
P31
P3829
P3835
kohsuke-imai2
P496
0000-0003-2132-8403