AI Article Synopsis
- - This study describes a case of a rare primary immunodeficiency caused by mutations in the CARMIL2 gene, presenting in a child with symptoms similar to actinic prurigo.
- - The child's symptoms included skin issues triggered by sunlight (photodermatitis), a tendency to develop allergies, and frequent infections.
- - The case emphasizes the unique skin-related symptoms of this specific T-cell immunodeficiency and reviews other documented skin conditions associated with it in medical literature.
Article Abstract
We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7599087 | PMC |
| http://dx.doi.org/10.1111/pde.14173 | DOI Listing |
Publication Analysis
Top Keywords
carmil2-related immunodeficiency
4
immunodeficiency manifesting
4
manifesting photosensitivity
4
photosensitivity report
4
report case
4
case newly
4
newly recognized
4
recognized primary
4
primary immunodeficiency
4
immunodeficiency biallelic
4
Similar Publications
CARMIL2-related immunodeficiency manifesting with photosensitivity.
Pediatr Dermatol
July 2020
Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.
Article Synopsis
- - This study describes a case of a rare primary immunodeficiency caused by mutations in the CARMIL2 gene, presenting in a child with symptoms similar to actinic prurigo.
- - The child's symptoms included skin issues triggered by sunlight (photodermatitis), a tendency to develop allergies, and frequent infections.
- - The case emphasizes the unique skin-related symptoms of this specific T-cell immunodeficiency and reviews other documented skin conditions associated with it in medical literature.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!