A5082458518- Immunodeficiency and Autoimmune Disorders
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Mycobacterium research and diagnosis
- Antifungal resistance and susceptibility
- Acute Myeloid Leukemia Research
- Fungal Infections and Studies
- Inflammatory Bowel Disease
- Hematopoietic Stem Cell Transplantation
- Immune Cell Function and Interaction
- Cytomegalovirus and herpesvirus research
- Blood disorders and treatments
- Pneumocystis jirovecii pneumonia detection and treatment
- Tuberculosis Research and Epidemiology
- Immune cells in cancer
- Infectious Diseases and Tuberculosis
- Autoimmune and Inflammatory Disorders
- Genomics and Rare Diseases
- Inflammasome and immune disorders
- Eosinophilic Esophagitis
- RNA modifications and cancer
- Complement system in diseases
- Sarcoidosis and Beryllium Toxicity Research
- Chronic Lymphocytic Leukemia Research
- Cancer Immunotherapy and Biomarkers
- Congenital Diaphragmatic Hernia Studies
National Institute of Allergy and Infectious Diseases
2016-2025
National Institutes of Health
2016-2025
National Institutes of Health Clinical Center
2017-2025
National Institute of Diabetes and Digestive and Kidney Diseases
2023
ProQuest (United States)
2023
National Cancer Institute
2000-2021
Children's Hospital of Pittsburgh
2020
Baylor College of Medicine
2020
Hospital Virgen de la Salud
2020
Universidade de São Paulo
2020
Background. Chronic granulomatous disease (CGD) is due to defective nicotinamide adenine dinucleotide phosphate oxidase activity and characterized by recurrent infections with a limited spectrum of bacteria fungi as well inflammatory complications. To understand the impact common severe in CGD, we examined records 268 patients followed at single center over 4 decades. Methods. All had confirmed diagnoses genotype was determined where possible. Medical were excerpted into standard format....
A patient with leukocyte adhesion deficiency type 1 (LAD1) had severe periodontitis and an intractable, deep, nonhealing sacral wound. We previously found a dominant interleukin-23-interleukin-17 signature at inflamed sites in humans LAD1 mouse models of the disorder. Blockade this pathway has resulted resolution immunopathologic condition. treated our ustekinumab, antibody that binds p40 subunit interleukin-23 interleukin-12 thereby blocks activity these cytokines, inhibiting...
Abstract Neutrophils employ several mechanisms to restrict fungi, including the action of enzymes such as myeloperoxidase (MPO) or NADPH oxidase, and release neutrophil extracellular traps (NETs). Moreover, they cooperate, forming “swarms” attack fungi that are larger than individual neutrophils. Here, we designed an assay for studying how these work together contribute neutrophil's ability contain clusters live Candida . We find swarming over delays germination through MPO restricts fungal...
Abstract Background The natural history of anti-interferon-γ (IFN-γ) autoantibody-associated immunodeficiency syndrome is not well understood. Methods Data 74 patients with anti-IFN-γ autoantibodies at Srinagarind Hospital, Thailand, were collected annually (median follow-up duration, 7.5 years). Annual data for 19 and initial 4 the US National Institutes Health 4.5 Anti-IFN-γ autoantibody levels measured in plasma samples. Results Ninety-one percent Southeast Asian descent; there was a...
Autoantibodies against interleukin-12 (anti-interleukin-12) are often identified in patients with thymoma, but opportunistic infections develop only some of these patients. Interleukin-12 (with subunits p40 and p35) shares a common subunit interleukin-23 (subunits p19). In patient disseminated
Mutations in the interferon (IFN)–γ receptor predispose to infection with bacille Calmette-Guùrin, nontuberculous mycobacteria, and Salmonella organisms. We identified a patient recurrent disseminated Histoplasma capsulatum osteomyelitis who had an autosomal dominant form of IFN-γ 1 deficiency (i.e., 4-bp deletion at or near base 818). IFN-γ—mediated immunity is important control histoplasmosis.
We treated 14 patients with GATA2 deficiency using a nonmyeloablative allogeneic hematopoietic stem cell transplantation regimen. Four received peripheral blood cells from matched related donors (MRD), 4 unrelated (URD), umbilical cord (UCB), and 2 bone marrow haploidentical donors. MRD URD recipients conditioning 3 days of fludarabine 200 cGy total body irradiation (TBI). Haploidentical donor UCB cyclophosphamide additional along cGY TBI. MRD, URD, tacrolimus sirolimus for...
Allogeneic hematopoietic stem cell transplantation (HSCT) reverses the bone marrow failure syndrome due to GATA2 deficiency. The intensity of conditioning required achieve reliable engraftment and prevent relapse remains unclear. Here, we describe results a prospective study HSCT in 22 patients with deficiency using busulfan-based regimen. included 2 matched related donor (MRD) recipients, 13 unrelated (URD) 7 haploidentical (HRD) recipients. MRD URD recipients received 4 days busulfan...
Background. Most patients infected with Epstein-Barr virus (EBV) are asymptomatic, have nonspecific symptoms, or self-limiting infectious mononucleosis. EBV, however, may result in severe primary disease cancer. Methods. We report EBV diseases associated GATA2 deficiency at one institution and describe the hematology, virology, cytokine findings. Results. Seven developed disease. Three presented mononucleosis requiring hospitalization, 1 had chronic active (B-cell type), EBV-associated...
Signal transducer and activator of transcription (STAT)1 gain function (GOF) pathogenic variants have been associated with increased levels phosphorylated STAT1 STAT1-dependent cellular responses. Delayed dephosphorylation was proposed as the underlying mechanism leading to characteristically raised pSTAT1 levels. We examined protein message well rates phosphorylation, degradation GOF variants. Fresh peripheral blood mononuclear cells (PBMC) from 14 patients carrying 10 different in...
Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% whom develop disseminated disease. To address why some individuals allow dissemination, we enrolled patients with DCM performed whole-exome sequencing. In an exploratory set 67 DCM, 2 had haploinsufficient STAT3 mutations, defects β-glucan sensing response were seen 34 cases. Damaging CLEC7A...