title: Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.
abstract: The immunoglobulin class switch recombination deficiency or hyper-IgM syndrome is characterized by normal or elevated serum IgM and low serum levels of other immunoglobulins. Since the first reported patient with hyper-IgM, more than 200 patients with this phenotype resulted from CD40 ligand deficiency have been reported. However, in addition to this common finding, they presented with different manifestations like opportunistic infections, autoimmunity and malignancies each of them are worth a detailed look. In this review, we will focus on different underlying mechanisms of these presentations to review what we have learned from our patients. In the end, we will discuss different treatment options available for these patients using this knowledge.
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Armin
authors.initials: A
authors.lastname: Hirbod-Mobarakeh
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy; D023201:CD40 Ligand / Q000276:immunology; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000150:complications / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy; D017578:Immunoglobulin Class Switching; D009369:Neoplasms / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy; D009894:Opportunistic Infections / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy
chemical_list: D023201:CD40 Ligand