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Published on: September 26, 2013
Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration
1Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Journal of Human Immunity
|June 11, 2026
Summary
This study reports the first case of autosomal recessive cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) deficiency in humans. The patient
Area of Science:
- Immunology
- Human Genetics
Background:
- Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) plays a critical role in immune regulation.
- Deficiencies in CTLA-4 signaling can lead to immune dysregulation and autoimmunity.
Purpose of the Study:
- To report the first identified case of autosomal recessive CTLA-4 deficiency in a human.
- To compare the clinical and immunological features of this patient with other CTLA-4 related conditions.
Main Methods:
- Clinical case report.
- Comparative analysis of patient data with existing literature and mouse models.
Main Results:
- Detailed characterization of the first human patient with autosomal recessive CTLA-4 deficiency.
- Comparison highlighting unique and shared features across different CTLA-4 deficiency contexts.
Conclusions:
- Autosomal recessive CTLA-4 deficiency presents a distinct clinical phenotype.
- Understanding this deficiency deepens insights into CTLA-4 function in human immunity.
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