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Article
Open Access18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q deletion syndrome who presented with late-onset combined immune d...
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Article
Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity
Alemtuzumab is used with reduced-toxicity conditioning (RTC) in allogeneic hematopoietic cell transplantation (HCT), demonstrating efficacy and feasibility for patients with inborn errors of immunity (IEI) in ...
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Article
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases. We identified two Japanese patients, suffering from superficial and invasive Candida albicans diseases, carrying biallelic va...
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Article
Open AccessIntracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report
T-cell acute lymphoblastic leukemia (T-ALL) tends to involve central nervous system (CNS) infiltration at diagnosis. However, cases of residual CNS lesions detected at the end of induction and post early inten...
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Article
Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH
When Epstein-Barr virus (EBV) infection is suspected, identification of infected cells is important to understand the pathogenesis, determinine the treatment strategy, and predict the prognosis. We used the Pr...
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Article
A deep intronic BTK variant underlies X-linked agammaglobulinemia
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Article
Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The depletion of SBDS protein by RNA interference has been shown ...
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Article
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function
While SARS-CoV-2 infection causes a mild disease in most children, SARS-CoV-2 infection may be lethal in a few of them. In the defense against SARS-CoV-2, type I interferons are key players, and several studie...
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Article
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
Owing to advances in genomics that enable differentiation of molecular aetiologies, patients with monogenic inflammatory bowel disease (mIBD) potentially have access to genotype-guided precision medicine. In t...
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Article
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
Autoimmune lymphoproliferative syndrome (ALPS) is a disease of lymphocyte homeostasis caused by FAS-mediated apoptotic pathway dysfunction and is characterized by non-malignant lymphoproliferation with an incr...
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Article
Dexamethasone palmitate as an etoposide-free treatment for children with hemophagocytic lymphohistiocytosis after hematopoietic cell transplantation
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Article
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by variants in Bruton’s tyrosine kinase (BTK). XLA patients require lifelong immunoglobulin replacement therapy (IgRT). Only few XLA patient...
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Article
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
The MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic variants in NBN and MRE11 give rise to the autosomal-recessive diseases, Nijmegen breakage synd...
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Article
Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors
Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis, elevated serum IgE, and recurrent infections, comprising a see...
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Article
Intensification of treatment with vinca alkaloid does not improve outcomes in pediatric patients with Langerhans cell histiocytosis: results from the JPLSG LCH-12 study
Chemotherapy with cytarabine, vincristine (VCR), and prednisolone has achieved low mortality rates in pediatric patients with Langerhans cell histiocytosis (LCH). However, relapse rates remain high, making eve...
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Article
Maternal Gonosomal Mosaicism Causes XIAP Deficiency
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Article
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
Artemis is an exonuclease essential for V(D)J recombination and repair of DNA double-stranded breaks. Pathogenic variants in DCLRE1C encoding Artemis cause T−B−NK+ severe combined immunodeficiency (SCID), and pat...
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Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
Heterozygous dominant-negative (DN) STAT1 variants are responsible for autosomal dominant (AD) Mendelian susceptibility to mycobacterial disease (MSMD). In this paper, we describe eight MSMD cases from four kindr...
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Article
Open AccessDisease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We charac...
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Article
B-Cell Immune Reconstitution with Mixed Chimerism After Hematopoietic Cell Transplantation in a Patient with Severe Combined Immunodeficiency
