A5083800712- Immunodeficiency and Autoimmune Disorders
- Transplantation: Methods and Outcomes
- Immune Cell Function and Interaction
- Renal Transplantation Outcomes and Treatments
- Blood groups and transfusion
- Lymphoma Diagnosis and Treatment
- Viral Infections and Immunology Research
- Chronic Lymphocytic Leukemia Research
- interferon and immune responses
- Blood disorders and treatments
- NF-κB Signaling Pathways
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cytomegalovirus and herpesvirus research
- Immune Response and Inflammation
- Pneumocystis jirovecii pneumonia detection and treatment
- T-cell and B-cell Immunology
Lurie Children's Hospital
2022-2025
Northwestern University
2023-2025
Seattle Children's Hospital
2025
University of Washington
2025
Pediatric heart transplant recipients are at risk for complications from prolonged exposure to immunosuppressive drugs, possibly worsened due over-immune suppression in patients with pre-existing immune abnormalities. This was a retrospective, single-center pediatric cohort study and review of baseline evaluation referred transplant. Referrals included were January 1, 2021, June 31, 2022. Fifty-one during the time period median age 5 years (ranging 1 month-20 years). Twenty-seven total...
Septins, a highly conserved family of GTP-binding, filament-forming proteins, serve as scaffolds and diffusion barriers in various cellular processes. SEPTIN6 is involved hematopoiesis, assisting cell division cytokinesis. We present the second reported case SEPTIN6-related disease with X-linked congenital neutropenia, tetraploid precursors, multinucleated myeloid cells associated unique finding B deficiency abnormal initial NBS. A full-term male infant uncomplicated delivery screened...
We present a unique and unusual case of male patient diagnosed with two coexisting typically unassociated X-linked conditions: he was initially agammaglobulinemia (XLA) followed by diagnosis chronic granulomatous disease (XCGD) an as yet unpublished hypomorphic gp91phox variant in the CYBB gene. The latter tested after finding gingivitis. Hematopoietic stem cell transplant (HSCT) performed due to severe colitis nodular regenerative hyperplasia (NRH) liver. Following transplant, complete...
Tocilizumab is reported to reduce systemic inflammation in individuals with SLC29A3 spectrum disorder, but its effect on hearing loss has not been described. The authors present a boy toddler history of prematurity, dysphagia, hypersplenism, hyperpigmentation, short height and who was referred the immunology clinic. He initially presented shortly after birth abnormal screens followed by positive urine test for cytomegalovirus. However, infection determined be postnatally acquired most likely...
Hyper IgM syndromes are a group of disorders characterized by defective T and B cell interactions resulting in the lack Immunoglobulin class switching. The most common hyper syndrome is CD40 ligand (CD40L) deficiency. Patients with CD40L deficiency present recurrent infection, neutropenia, autoimmunity. These patients typically have absent serum IgA IgG due to switch defect. Here we case who presented oral ulcers, failure thrive, fever. His laboratory evaluation was notable for intermittent...