M. Ueki
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View article: Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome
Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome Open
STAT3-hyper IgE syndrome (STAT3-HIES) is a primary immunodeficiency disorder caused by dominant-negative mutations in STAT3 , leading to defects in Th17 cell differentiation, immune regulation, and tissue repair. Patients are susceptible t…
View article: Near-infrared photoimmunotherapy using antiGD2 antibody for neuroblastoma and osteosarcoma
Near-infrared photoimmunotherapy using antiGD2 antibody for neuroblastoma and osteosarcoma Open
Introduction: Near-infrared photoimmunotherapy (NIR-PIT) is a novel cancer therapy that specifically targets cancer cells. In NIR-PIT, antibody-photo-absorber-conjugates (APCs), specific for cancer antigens, target cancer cells. APCs that …
View article: Fulminant Type 1 Diabetes Mellitus Leading to Diabetic Ketoacidosis and Mesenteric Ischemia With Necrosis Following Pembrolizumab Administration: A Case Report
Fulminant Type 1 Diabetes Mellitus Leading to Diabetic Ketoacidosis and Mesenteric Ischemia With Necrosis Following Pembrolizumab Administration: A Case Report Open
Immune checkpoint inhibitors (ICIs), such as pembrolizumab, have revolutionized cancer therapy but can lead to severe immune-related adverse events (irAEs). We present a case of fulminant type 1 diabetes mellitus (T1DM) with diabetic ketoa…
View article: Pyoderma gangrenosum arising at the site of BCG immunization in a nine-month-old girl
Pyoderma gangrenosum arising at the site of BCG immunization in a nine-month-old girl Open
Pyoderma gangrenosum (PG) is an extremely rare disorder in children. We report a nine-month-old girl with PG who presented with high-grade fever and rapidly progressive ulcers at the site of a Bacillus Calmette-Guérin (BCG) inoculation 2 m…
View article: Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG
Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG Open
X-linked NF-κB essential modulator (NEMO) deficiency is a primary immunodeficiency characterized by combined immunodeficiency and ectodermal dysplasia. Monocytes from the patients demonstrate a severely impaired response to tissue necrosis…
View article: Chronic Ileum Obstruction, Granulation, and Ulceration With IgG4-Positive Plasma Cell Infiltration in a Six-Year-Old Girl With 21trisomy
Chronic Ileum Obstruction, Granulation, and Ulceration With IgG4-Positive Plasma Cell Infiltration in a Six-Year-Old Girl With 21trisomy Open
Patients with 21trisomy often develop congenital or acquired gastrointestinal diseases, such as duodenal or anal atresia, celiac disease, intussusception, and constipation. In these patients, it is often challenging to diagnose gastrointes…
View article: The clinical importance of pulmonary gene and protein expression levels in an infant with lethal ABCA3 variants
The clinical importance of pulmonary gene and protein expression levels in an infant with lethal ABCA3 variants Open
The authors declare no conflicts of interest. The data that support the findings of this study are openly available. The data that support the findings of this study are openly available in Clinical Genomic Database at https://research.nhg…
View article: A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the <i>TAZ</i> gene
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the <i>TAZ</i> gene Open
Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ , which encodes a putative acyltransferase named tafaz…