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T Cell Types and Functions01:24

T Cell Types and Functions

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When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
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Immunotherapy is a treatment that boosts or manipulates the immune system to fight diseases, including cancer. For instance, by stimulating an immune response through vaccinations against viruses that cause cancers, like hepatitis B virus and human papillomavirus, these diseases can be prevented. Nonetheless, some cancer cells can avoid the immune system due to their rapid mutation and division. The immune response to many cancers involves three phases: elimination, equilibrium, and escape.
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[Autoimmunity in Patients with CTLA-4 Haploinsufficiency].

María Isabel Saad Manzanera1, Iris Guendaranashii García Acevedo2, Mariana Guadalupe Jiménez Fonseca2

  • 1Unidad Médica de Alta Especialdad, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Intituto Mexicano del Seguro Social, Ciudad de México. mariasaad9@gmail.com.

Revista Alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
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PubMed
Summary

CTLA4 deficiency, a genetic disorder affecting T and B lymphocytes, presents complex autoimmune and immunodeficiency symptoms. Early diagnosis and targeted treatments like abatacept can significantly improve patient outcomes.

Keywords:
AutoimmunityCTLA4 antigenGenetic dosageImmunodeficiencyImmunodeficiency syndrome

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • CTLA4 deficiency is a rare genetic disorder caused by mutations in the CTLA4 gene.
  • It leads to dysregulated T (TL) and B (BL) lymphocyte activity, resulting in complex autoimmune and immunodeficiency syndromes.
  • The condition exhibits a variable clinical spectrum and poses diagnostic challenges.

Purpose of the Study:

  • To highlight the diagnostic difficulties and clinical presentation of CTLA4 deficiency.
  • To emphasize the importance of genetic testing in identifying CTLA4 deficiency.
  • To discuss current and potential therapeutic strategies for CTLA4 deficiency.

Main Methods:

  • Case report of a 16-year-old male with a history of autoimmune hemolytic anemia, thrombocytopenia, diarrhea, atopic dermatitis, and recurrent infections.
  • Laboratory evaluation including immunoglobulin levels, complete blood count, and lymphocyte subset analysis.
  • Genetic testing to confirm heterozygous CTLA4 deficiency.

Main Results:

  • The patient presented with a complex autoimmune and immunodeficiency phenotype, including autoimmune hemolytic anemia, thrombocytopenia, enteropathy, and skin lesions.
  • Laboratory results showed hypogammaglobulinemia (IgA 1 mg/dL, IgM 2 mg/dL) and altered lymphocyte populations.
  • Genetic testing confirmed heterozygous CTLA4 deficiency.

Conclusions:

  • CTLA4 deficiency diagnosis is challenging due to its diverse clinical manifestations.
  • Impaired T and B lymphocyte function results in severe autoimmunity, hypogammaglobulinemia, recurrent infections, and potential malignancies.
  • Treatment options include immunoglobulin replacement, prophylactic antibiotics, immunosuppressants, bone marrow transplantation, and targeted therapies like abatacept, which can improve quality of life and prognosis.