PUBLICATION
A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
- Authors
- Lu, H.Y., Sertori, R., Contreras, A.V., Hamer, M., Messing, M., Del Bel, K.L., Lopez-Rangel, E., Chan, E.S., Rehmus, W., Milner, J.D., McNagny, K.M., Lehman, A., Wiest, D.L., Turvey, S.E.
- ID
- ZDB-PUB-211214-34
- Date
- 2021
- Source
- Frontiers in immunology 12: 788278 (Journal)
- Registered Authors
- Wiest, David
- Keywords
- BCL11B, hyper IgE, inborn errors of immunity, primary atopic disorders, primary immunodeficiencies
- MeSH Terms
-
- Adolescent
- Animals
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation*
- Heterozygote
- Humans
- Hypersensitivity/diagnosis
- Hypersensitivity/genetics*
- Hypersensitivity/immunology
- Phenotype
- Primary Immunodeficiency Diseases/diagnosis
- Primary Immunodeficiency Diseases/genetics*
- Primary Immunodeficiency Diseases/immunology
- Primary Immunodeficiency Diseases/metabolism
- Repressor Proteins/genetics*
- Repressor Proteins/metabolism
- Severity of Illness Index
- T-Lymphocytes/immunology*
- T-Lymphocytes/metabolism
- Tumor Suppressor Proteins/genetics*
- Tumor Suppressor Proteins/metabolism
- Zebrafish/genetics
- Zebrafish/metabolism
- Zebrafish Proteins/genetics
- Zebrafish Proteins/metabolism
- PubMed
- 34887873 Full text @ Front Immunol
Citation
Lu, H.Y., Sertori, R., Contreras, A.V., Hamer, M., Messing, M., Del Bel, K.L., Lopez-Rangel, E., Chan, E.S., Rehmus, W., Milner, J.D., McNagny, K.M., Lehman, A., Wiest, D.L., Turvey, S.E. (2021) A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Frontiers in immunology. 12:788278.
Abstract
B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. Germline heterozygous variants are associated with a spectrum of clinical disorders, including severe combined immunodeficiency as well as neurological, craniofacial, and dermal defects. Of these individuals, ~50% present with severe allergic disease. Here, we report the detailed clinical and laboratory workup of one of the most severe BCL11B-dependent atopic cases to date. Leveraging a zebrafish model, we were able to confirm a strong T-cell defect in the patient. Based on these data, we classify germline BCL11B-dependent atopic disease as a novel primary atopic disorder.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping