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A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report
Fatemeh Zaremehrjardi1, Leila Baniadam, Farhad Seif
1Department of Allergy and Clinical Immunology, Rasul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Iranian Journal of Immunology : IJI
|September 30, 2020
Summary
A rare CTLA-4 gene mutation in a young male caused multiple autoimmune diseases and persistent infections. This case highlights CTLA4 haploinsufficiency as a cause of primary immunodeficiency diseases (PID).
Area of Science:
- Immunology
- Genetics
Background:
- Primary immunodeficiency diseases (PID) manifest as increased susceptibility to infections, autoimmunity, and allergies.
- Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is crucial for T-cell regulation, expressed on T-cells and binding CD80/CD86 on antigen-presenting cells.
Observation:
- A 24-year-old male with consanguineous parents presented with a history of alopecia areata, Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea.
- Infectious manifestations included chronic rhinosinusitis and cytomegalovirus (CMV) colitis.
- Immunologic workup showed low B cell count, abnormal lymphocyte transformation tests (LTT), and hypogammaglobulinemia, with persistent diarrhea despite various treatments.
Findings:
- Whole exome sequencing identified a heterozygous variant (CHR2.204,735,635 G>A) in the CTLA-4 gene, confirmed by Sanger sequencing.
- This genetic finding indicates CTLA4 haploinsufficiency.
Implications:
- CTLA4 haploinsufficiency is associated with autoimmune disorders, recurrent infections, hypogammaglobulinemia, and lymphoproliferation.
- This case underscores the importance of genetic investigation in complex primary immunodeficiencies with autoimmune manifestations.
