A5067148299- Immunodeficiency and Autoimmune Disorders
- Protein Tyrosine Phosphatases
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Cancer-related gene regulation
- Urticaria and Related Conditions
- Wnt/β-catenin signaling in development and cancer
- Blood disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- dental development and anomalies
- IL-33, ST2, and ILC Pathways
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Galectins and Cancer Biology
- Blood groups and transfusion
- Cytokine Signaling Pathways and Interactions
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Oral and gingival health research
- Erythrocyte Function and Pathophysiology
Cleveland Clinic
2020-2024
Rockefeller University
2024
Genesis HealthCare
2023
Case Western Reserve University
2020
Cleveland Clinic Lerner College of Medicine
2020
TCF3 is a transcription factor contributing to early lymphocyte differentiation. Germline monoallelic dominant negative and biallelic loss-of-function (LOF) null mutations cause fully penetrant severe immunodeficiency. We identified 8 individuals from 7 unrelated families with LOF variants presenting immunodeficiency incomplete clinical penetrance.