Motoi Yamashita
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View article: Runx/Cbfβ regulates the development of tolerogenic Thetis cells
Runx/Cbfβ regulates the development of tolerogenic Thetis cells Open
Establishing immune tolerance to gut microbiota and food antigens upon first exposures during early life is essential to prevent inflammatory bowel diseases and food allergy and depends on induction of peripherally induced Rorγt expressing…
View article: IKZF-associated inborn errors of immunity
IKZF-associated inborn errors of immunity Open
IKAROS, HELIOS, and AIOLOS are transcription factors predominantly expressed in hematopoietic cells, where they form heteromeric and homodimeric complexes and facilitate transcriptional regulation. IKZF proteins also associate with non-IKZ…
View article: Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy
Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy Open
Upregulation of the interferon pathway exists already at birth-not only in neonates with type I interferonopathy but also in other IEIs, including CGD.
View article: Healthcare resources for inborn errors of immunity in the Asia-Pacific region
Healthcare resources for inborn errors of immunity in the Asia-Pacific region Open
This questionnaire-based study provides insights into the current healthcare infrastructure used to diagnose and manage inborn errors of immunity across countries and regions involved in the Asia-Pacific Society for Immunodeficiencies.
View article: Cell-type specific, inducible and acute degradation of targeted protein in mice by two degron systems
Cell-type specific, inducible and acute degradation of targeted protein in mice by two degron systems Open
View article: A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity Open
Purpose Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic di…
View article: AIOLOS-Associated Inborn Errors of Immunity
AIOLOS-Associated Inborn Errors of Immunity Open
AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role in regulating lymphocyte development. Recently, heterozygous missense loss-of-function variants within the DNA-bindin…
View article: Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report
Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report Open
View article: A Bcl11bN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice
A Bcl11bN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice Open
BCL11B is a transcription factor with six C 2 H 2 -type zinc-finger domains. Studies in mice have shown that Bcl11b plays essential roles in T cell development. Several germline heterozygous BCL11B variants have been identified in human pa…
View article: A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders
A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders Open
Newborn screening using dried blood spot (DBS) samples has made a substantial contribution to public healthcare by detecting patients with genetic disorders as neonates. Targeted measurements of nucleic acids and metabolites have played ma…
View article: Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function
Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function Open
AIOLOS, encoded by IKZF3 , is a member of the IKZF family of proteins that plays an important role in regulating late B-cell differentiation. Human individuals heterozygous for the AIOLOS p.N160S variant displayed impaired humoral immune r…
View article: Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I
Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I Open
Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive inborn error of immunity (IEI) caused by the defects in CD18, encoded by the ITGB2 gene. LAD-I is characterized by defective leukocyte adhesion to the vascular endo…
View article: AIOLOS Variants Causing Immunodeficiency in Human and Mice
AIOLOS Variants Causing Immunodeficiency in Human and Mice Open
AIOLOS is encoded by IKZF3 and is a member of the IKAROS zinc finger transcription factor family. Heterozygous missense variants in the second zinc finger of AIOLOS have recently been reported to be found in the families of patients with i…
View article: Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child
Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child Open
View article: Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study Open
IKAROS and CTLA4 deficiencies are inborn errors of immunity and show similar clinical phenotypes, including hypogammaglobulinemia and autoimmune diseases (ADs). However, the differences in clinical features and pathogenesis of these are no…
View article: Successful ruxolitinib administration for a patient with steroid‐refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review
Successful ruxolitinib administration for a patient with steroid‐refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review Open
Idiopathic pneumonia syndrome (IPS) is an acute lung complication observed after the early posthematopoietic stem cell transplantation (HSCT) period. Ruxolitinib was effective for a patient with myelodysplastic syndrome who developed sever…
View article: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients Open
AIOLOS/IKZF3 is a member of the IKAROS family of transcription factors. IKAROS/IKZF1 mutations have been previously associated with different forms of primary immunodeficiency. Here we describe a novel combined immunodeficiency due to an I…
View article: A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS Open
View article: Inborn errors of immunity—recent advances in research on the pathogenesis
Inborn errors of immunity—recent advances in research on the pathogenesis Open
Primary immunodeficiency (PID) is a genetic disorder with a defect of one of the important components of our immune system. Classical PID has been recognized as a disorder with loss of function of the immune system. Recent studies have unv…
View article: Author Correction: Runx/Cbfβ complexes protect group 2 innate lymphoid cells from exhausted-like hyporesponsiveness during allergic airway inflammation
Author Correction: Runx/Cbfβ complexes protect group 2 innate lymphoid cells from exhausted-like hyporesponsiveness during allergic airway inflammation Open
View article: Runx/Cbfβ complexes protect group 2 innate lymphoid cells from exhausted-like hyporesponsiveness during allergic airway inflammation
Runx/Cbfβ complexes protect group 2 innate lymphoid cells from exhausted-like hyporesponsiveness during allergic airway inflammation Open
Group 2 innate lymphoid cells (ILC2s) have tissue-resident competence and contribute to the pathogenesis of allergic diseases. However, the mechanisms regulating prolonged ILC2-mediated T H 2 cytokine production under chronic inflammatory …
View article: Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation
Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation Open
Our patient showed that a hypomorphic mutation of ZAP70 can lead to EBV-associated LPD and that EBV-specific CD8+ T cells and iNKT cells are critically involved in immune response against EBV infection.
View article: Flow cytometry-based diagnosis of primary immunodeficiency diseases
Flow cytometry-based diagnosis of primary immunodeficiency diseases Open
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rap…
View article: Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations Open
View article: Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study Open
View article: Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity Open