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September 30, 2025

[Autoimmunity in Patients with CTLA-4 Haploinsufficiency].

M. J. Manzanera Iris Guendaranashii García Acevedo Mariana Fonseca S. Tenorio Patricia Molina Jacqueline Edith Mut Quej Patricia María O’Farrill-Romanillos Diana Andrea Herrera-Sánchez Gabriela López‐Herrera

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Key Points

CTLA-4 deficiency led to severe autoimmune symptoms like hemolytic anemia and recurrent infections.
Laboratory tests indicated hypogammaglobulinemia with notably low immunoglobulin levels and impaired lymphocyte function.
Recognizing CTLA-4 deficiency allows for targeted immunosuppressant treatments, improving patient outcomes.
The complexity of the disorder complicates diagnosis and requires a detailed understanding of autoimmune processes.

Implication

Reports severe autoimmune manifestations in a patient with CTLA-4 deficiency, suggesting targeted therapies.

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Cite This Study

Manzanera et al. (2025) studied this question.

synapsesocial.com/papers/68e2537cd6d66a53c2474576 https://doi.org/10.29262/ram.v72i3.1527

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Diagnostic Utility of Genetic Testing in a Complex Multisystem Presentation: A Case of CTLA4 HaploinsufficiencyOriginal Research · 2026
2A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulationOriginal Research · 2026 · 2 citations
3Clinical and genetic features of CTLA-4 haploinsufficiency: a prospective study in ChinaCohort Study · 2026 · 1 citations
4A Novel Missense Variant in CTLA4 Associated with Immune Dysregulation2025
5Immune thrombocytopenia and systemic lymphoproliferative syndrome as primary clinical manifestations of combined immunodeficiency associated with CTLA-4 deficiency2025