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Murine Model of CD40-activation of B cells

Murine Model of CD40-activation of B cells

Published on: March 5, 2010

CD40 Ligand Deficiency.

L F B Leite¹, T A Máximo¹, T Mosca²

¹Immunodeficiency and Allergy Unit - Pediatrics Department, Irmandade da Santa Casa de Misericódia de São Paulo, São Paulo/SP, Brazil.

Allergologia Et Immunopathologia

|December 14, 2019

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CD40 ligand deficiency (CD40L) is an inborn error of immunity impacting boys, causing infections and immune defects. Early diagnosis and treatments like immunoglobulin therapy or stem cell transplant are crucial for patient outcomes.

Area of Science:

Immunology
Genetics
Pediatrics

Background:

CD40 ligand deficiency (CD40L) is an inborn error of immunity affecting cellular and humoral immunity.
Primarily diagnosed in boys within the first two years of life, it presents with decreased IgG, IgA, and IgE, normal/high IgM, impaired T cell proliferation, and reduced soluble CD40L.

Purpose of the Study:

To review the literature on CD40 ligand deficiency.
To highlight the importance of differential diagnosis with other inborn errors of immunity, such as CD40 deficiency and common variable immunodeficiency.

Main Methods:

Literature review of CD40 ligand deficiency.
Analysis of clinical manifestations, diagnostic criteria, and treatment options.

Main Results:

Keywords:

CD40 ligand Hyper-IgM immunodeficiency syndrome Immune system diseases Immunoglobulins Immunologic deficiency syndromes

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Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

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CD40L deficiency leads to sinopulmonary and/or gastrointestinal infections, opportunistic infections, autoimmune diseases, and neoplasms.
Mild to moderate cases may respond to prophylactic antibiotics or immunoglobulin replacement therapy.
Severe cases can be treated with hematopoietic stem cell transplantation for potential cure.

Conclusions:

Accurate differential diagnosis is essential for effective management of CD40L deficiency.
Timely intervention with appropriate therapies, including stem cell transplantation for severe cases, improves patient prognosis and prevents long-term sequelae.