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Journal Information
Vol. 48. Issue 4.
Pages 409-413 (July - August 2020)
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Vol. 48. Issue 4.
Pages 409-413 (July - August 2020)
DOI: 10.1016/j.aller.2019.08.005
CD40 Ligand Deficiency
L.F.B. Leitea, T.A. Máximoa, T. Moscab, W.C.N. Forteb,
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Corresponding author.
a Immunodeficiency and Allergy Unit - Pediatrics Department, Irmandade da Santa Casa de Misericódia de São Paulo, São Paulo/SP, Brazil
b Immunology Discipline - Pathology Department, Santa Casa de Sao Paulo School of Medical Sciences, São Paulo/SP, Brazil
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CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first two years of life. It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bacteria, opportunistic infections, autoimmune diseases, and neoplasms. Mild and moderate cases of this deficiency may respond well to prophylactic antibiotic therapy or to human immunoglobulin replacement therapy, in addition to the early treatment of infections. Severe cases can be treated with hematopoietic stem cell transplantation, which allows the healing of such patients, rather than sequelae and a poor progression. Thus, its differential diagnosis with other inborn errors of immunity is essential, especially CD40 deficiency and variable common immunodeficiency; the reason why we have proposed the present literature review.

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


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