A5015323311- CAR-T cell therapy research
- Diabetes and associated disorders
- Immunodeficiency and Autoimmune Disorders
- Biomedical Ethics and Regulation
- Blood disorders and treatments
- Blood groups and transfusion
- Neutropenia and Cancer Infections
- Platelet Disorders and Treatments
- T-cell and B-cell Immunology
- Biosimilars and Bioanalytical Methods
- Genetic Syndromes and Imprinting
- Multiple Myeloma Research and Treatments
- Neonatal Health and Biochemistry
- Fungal Infections and Studies
- Prenatal Screening and Diagnostics
- Infective Endocarditis Diagnosis and Management
- Immune Cell Function and Interaction
- Kruppel-like factors research
- Cardiovascular and Diving-Related Complications
- Bone fractures and treatments
- Orthopedic Infections and Treatments
- Congenital Heart Disease Studies
- Complement system in diseases
- Osteomyelitis and Bone Disorders Research
- Erythrocyte Function and Pathophysiology
Center for Biologics Evaluation and Research
2023-2024
United States Food and Drug Administration
2023-2024
Cleveland Clinic
2019-2023
Neutrophils migrate into inflamed tissue, engage in phagocytosis, and clear pathogens or apoptotic cells. These processes require well-coordinated events involving the actin cytoskeleton. We describe a child with severe neutropenia episodes of soft tissue infections pneumonia. Bone marrow examination showed granulocytic hypoplasia dysplasia. Whole-exome sequencing revealed de novo heterozygous missense mutation LCP1, which encodes F-actin-binding protein Lymphocyte Cytosolic Protein 1. To...
Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and regulatory function. CTLA4 haploinsufficiency (CTLA4 HI) leads to hyperactivation, immunodeficiency variable degree of dysregulation. Furthermore, HI predisposes affected individuals development various cancers. Less well understood the penetrance expressivity mutations. We describe five members a single family with heterozygous splice site mutation c.458-1G > C, previously...
Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) haploinsufficiency (HI) is an immune dysregulation disorder characterized by T lymphocyte hyperactivation, and generalized lymphoproliferative autoimmune disorders. Patients with CTLA4 are also prone to developing various malignancies. Due the rare nature of this condition, longitudinal evolution clinical manifestations remains be described. We report on over a decade-long course young adult men patient known haploinsufficiency, who...
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is an immune checkpoint, which downregulates T cell activation and regulatory function. CTLA-4 haploinsufficiency (CTLA4 HI) leads to hyperactivation, dysregulation, lymphoproliferation cancer predisposition. Less well understood the penetrance expressivity of mutations. We describe five members a single family with heterozygous splice site mutation c.458-1G>C, previously shown result in HI, who presented variable degree dysfunction,...