James Verbsky
A5021941925- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Autoimmune and Inflammatory Disorders Research
- Blood disorders and treatments
- Cytomegalovirus and herpesvirus research
- Inflammasome and immune disorders
- Cystic Fibrosis Research Advances
- Adolescent and Pediatric Healthcare
- Respiratory viral infections research
- Kawasaki Disease and Coronary Complications
- Acute Lymphoblastic Leukemia research
- Immune Response and Inflammation
- RNA modifications and cancer
- IL-33, ST2, and ILC Pathways
- Cytokine Signaling Pathways and Interactions
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- NF-κB Signaling Pathways
- Pneumocystis jirovecii pneumonia detection and treatment
- Systemic Lupus Erythematosus Research
- Neonatal Respiratory Health Research
- Hemoglobinopathies and Related Disorders
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Congenital Ear and Nasal Anomalies
Medical College of Wisconsin
2016-2025
Children's Hospital of Wisconsin
2011-2025
Marymount University
2023
Amgen (United States)
2021
Center for Rheumatology
2014
Pediatrics and Genetics
2013
College Station Medical Center
2010
Washington University in St. Louis
1996-2005
St. Louis Children's Hospital
2004
Institute of Immunology
2002
We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, systemic vasculopathy in three unrelated patients. suspected genetic cause because the disorder presented early childhood.We performed whole-exome sequencing initial patients their unaffected parents candidate-gene with similar phenotype, as well two young siblings polyarteritis nodosa one patient small-vessel vasculitis. Enzyme assays,...
We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis colocutaneous fistulae, consistent Crohn disease-like illness. The age severity of the presentation suggested an underlying immune defect; however, despite comprehensive clinical evaluation, we were unable arrive definitive diagnosis, thereby restricting management.We sought identify causative mutation(s) through exome sequencing provide necessary additional...
Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin 2008, and SCID was added the national recommended uniform panel newborn screened disorders 2010. Currently 23 states, District of Columbia, Navajo Nation conduct population-wide SCID. The incidence is estimated at 1 100,000 births.To present data from a spectrum programs, establish population-based other conditions with lymphopenia, document early...
We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed 175-kb homozygous deletion at chromosome 2q13, encompasses several interleukin-1 family members, including gene encoding interleukin-1-receptor antagonist (IL1RN). Mononuclear cells, obtained from cultured, produced large amounts of inflammatory cytokines, increasing secreted...
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- receptor-mediated immunity. We documented the clinical features outcome of 48 patients with IRAK-4 deficiency 12 MyD88 deficiency, from 37 kindreds in 15 countries. The were indistinguishable. There no severe viral, parasitic, fungal diseases, range bacterial infections was narrow. Noninvasive occurred 52 patients, a high incidence...
Abstract Natural killer (NK) cells are critical to both innate and adaptive immunity. However, the development heterogeneity of human NK yet be fully defined. Using single-cell RNA-sequencing technology, here we identify distinct populations in bone marrow blood, including one population expressing higher levels immediate early genes indicative a homeostatic activation. Functionally matured with high expression CX3CR1 , HAVCR2 (TIM-3), ZEB2 represents terminally differentiated status unique...
Objective To assess the efficacy and safety of rilonacept, an interleukin‐1 inhibitor, in a randomized, double‐blind, placebo‐controlled trial. Methods An initial 4‐week double‐blind placebo phase was incorporated into 24‐week randomized multicenter design, followed by open‐label phase. Seventy‐one children who had active arthritis ≥2 joints were (1:1) to 2 arms study. Patients rilonacept arm received (loading dose 4.4 mg/kg 2.2 weekly, subcutaneously) beginning on day 0. for 4 weeks loading...
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 implicated in lymphocyte and myeloid differentiation negative regulation of cell proliferation. In humans, somatic mutations have been linked to the development B acute lymphoblastic leukemia (ALL) children adults. Recently, heterozygous germline identified patients with a immune deficiency mimicking common variable immunodeficiency. These demonstrated incomplete penetrance led haploinsufficiency....
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased 36% (8/22). Disease causing variants were identified SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, BCS1L. In 75% (6/8) diagnosed cases, affected treatment and/or...
The pioneer transcription factor (TF) PU.1 controls hematopoietic cell fate by decompacting stem heterochromatin and allowing nonpioneer TFs to enter otherwise inaccessible genomic sites. deficiency fatally arrests lymphopoiesis myelopoiesis in mice, but human congenital disorders have not previously been described. We studied six unrelated agammaglobulinemic patients, each harboring a heterozygous mutation (four de novo, two unphased) of SPI1, the gene encoding PU.1. Affected patients...