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Article

A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report.

Iranian journal of immunology : IJI - 1 Sept 2020

Zaremehrjardi Fatemeh, Baniadam Leila, Seif Farhad, Arshi Saba, Bemanian Mohammad Hassan, Shokri Sima, Rezaeifar Afshin, Fallahpour Morteza, Nabavi Mohammad

Abstract excerpt

Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous...

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Autoimmune Diseases
Consanguinity
CTLA-4 Antigen
Haploinsufficiency
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

T-Lymphocytes, Regulatory

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PMID: 32996901
DOI: 10.22034/iji.2020.85641.1721

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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