CD40 Ligand Deficiency |
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| Affiliation: | 1. Immunodeficiency and Allergy Unit - Pediatrics Department, Irmandade da Santa Casa de Misericódia de São Paulo, São Paulo/SP, Brazil;2. Immunology Discipline - Pathology Department, Santa Casa de Sao Paulo School of Medical Sciences, São Paulo/SP, Brazil;1. Hitit University, Faculty of Medicine, Department of Biostatistics, Çorum, Turkey;2. Hitit University, Osmancık Ömer Derindere Vocational School, Department of Computer Technologies, Çorum, Turkey;3. Kırıkkale University, Faculty of Engineering, Department of Computer Engineering, Kırıkkale, Turkey;4. Hitit University, Faculty of Medicine, Department of Medical Microbiology, Çorum, Turkey;5. Department of Medical Microbiology and Clinical Microbiology, Faculty of Medicine, Near East University, Nicosia, Cyprus;6. Hebrew University-Hadassah Medical School, Department of Microbiology and Molecular Genetics, The Kuvin Center for the Study of Infectious and Tropical Diseases, Jerusalem, Israel;1. Postgraduate Program in Health Sciences, University of Southern Santa Catarina (UNISUL), Av. Pedra Branca, 25, Cidade Universitária Pedra Branca, 88137-270, Palhoça, Santa Catarina, SC, Brazil;2. Department of Internal Medicine and Allergy Clinic of Professor Polydoro Ernani de São Thiago University Hospital, Federal University of Santa Catarina (UFSC), Florianopolis, SC, Brazil;1. Department of Pediatric Allergy and Clinical Immunology, Trakya University, School of Medicine, Edirne, Turkey;2. Department of Internal Medicine, Trakya University, School of Medicine, Edirne, Turkey;3. Department of Biostatistics, Trakya University, School of Medicine, Edirne, Turkey |
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| Abstract: | 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. |
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| Keywords: | Immunologic deficiency syndromes CD40 ligand Hyper-IgM immunodeficiency syndrome Immune system diseases Immunoglobulins |
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