CD40 Ligand Deficiency

Leite, Luíz; Maximo, Tiago A; Mosca, Tainá; Forte, Wilma Carvalho Neves

doi:10.1016/j.aller.2019.08.005

Cited by 7 publications

(3 citation statements)

References 41 publications

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“…Deficiency in functional OX40 can lead to Kaposi sarcoma development in individuals with human herpes virus 8 infection ( 47 ). Similarly, CD40 or CD40 ligand deficiency can lead to immunodeficiency due to impaired APC function, which subsequently leads to impaired T-cell responses ( 48 , 49 ), alongside an absence of germinal center-mediated somatic hypermutation and class switching in the humoral response known as hyper-IgM syndrome ( 50 , 51 ). Dysregulation of the TNFRSF co-stimulatory receptor signaling and associated diseases identified to date are illustrated in Table 1 .…”

Section: Rationale Behind Targeting Tnfrsfmentioning

confidence: 99%

Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives

2023

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The tumor necrosis factor superfamily (TNFSF) and their receptors (TNFRSF) are important regulators of the immune system, mediating proliferation, survival, differentiation, and function of immune cells. As a result, their targeting for immunotherapy is attractive, although to date, under-exploited. In this review we discuss the importance of co-stimulatory members of the TNFRSF in optimal immune response generation, the rationale behind targeting these receptors for immunotherapy, the success of targeting them in pre-clinical studies and the challenges in translating this success into the clinic. The efficacy and limitations of the currently available agents are discussed alongside the development of next generation immunostimulatory agents designed to overcome current issues, and capitalize on this receptor class to deliver potent, durable and safe drugs for patients.

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Section: Rationale Behind Targeting Tnfrsfmentioning

confidence: 99%

Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives

2023

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“…Patients with XHIGM due to the defective interaction between T and B. Therefore, they are more susceptible to infections that depend on IgA, IgG and IgE, with repetitive episodes of sinusitis, otitis, tonsillitis, cutaneous infections, giardiasis, helminthiasis, enterovirus meningitis, pneumonia, in addition to impairment of weight and height gain, and a tendency to autoimmune diseases and neoplasms [ 10 ]. The majority of patients with XHIGM develop recurrent pulmonary infections in the first 2 years of life [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

et al. 2022

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Background X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene(CD40LG), presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pediatric patients with XHIGM in China. Methods We retrospectively reviewed seven pediatric patients who were diagnosed with XHIGM and received follow-up treatment at the Guangzhou Women and Children’s Medical Center between January 2010 and January 2021. We determined their clinical characteristics, causative pathogens, and prognosis by performing peripheral immunological and genetic tests. Results There were seven boys with age ranging from 4–20 months (median age, 13 months). Four of the seven respiratory infections were caused by Talaromyces marneffei(T. marneffei). Two patients had viral infections caused by cytomegalovirus (CMV) and human adenovirus respectively. One patient had a mixed infection caused by Pneumocystis carinii and CMV. Except for one child who died of respiratory failure, one patient received hematopoietic stem cell transplantation (HSCT) and recovered well, the other five patients survived with regular infusions of intravenous immunoglobulin (IVIg) during the follow-up period. Six patients had reduced antibody levels, especially IgG, IgA, and IgE levels. Increased serum IgM levels were detected in four cases, and three cases presented normal IgM levels at onset. All children were diagnosed with XHIGM with CD40LG variation. Three novel mutations were identified in the present study. Conclusions Our study suggests that respiratory infections usually begin within 2 years old, fungi and viruses are important pathogens causing respiratory infections in children with XHIGM. In endemic areas, T. marneffei is the common pathogen of respiratory tract infection in children with the disease.

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“…Importantly, those revised criteria also recommend to rule out profound T lymph cell deficiencies and clearly define the minimal age-matched T cell absolute count to preclude severe combined and combined immunodeficiencies (SCID and CID, respectively), such as CD40 ligand (CD40L) [ 7 ] and serine-threonine-kinase-4 (STK4) [ 8 ] deficiencies or the immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF) [ 9 ]. These immunodeficiencies most frequently manifest early in the child’s life mimicking CVID and later develop the phenotype of CID in which gradual T cell depletion occurs.…”

Section: Introductionmentioning

confidence: 99%

The pediatric common variable immunodeficiency — from genetics to therapy: a review

et al. 2021

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Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, immunological, and clinical heterogeneity. The diagnosis of pediatric CVID is challenging due to the immaturity of the immune response and sustained actively developing antibody affinity to antigens and immunological memory that may overlap with the inborn error of immunity. Significant progress has been recently done in the field of immunogenetics, yet a paucity of experimental and clinical studies on different systemic manifestations and immunological features of CVID in children may contribute to a delayed diagnosis and therapy. In this review, we aimed at defining the variable epidemiological, etiological, and clinical aspects of pediatric CVID with special emphasis on predominating infectious and non-infectious phenotypes in affected children.Conclusion: While pediatric CVID is a multifaceted and notorious disease, increasing the pediatricians’ awareness of this disease entity and preventing the diagnostic and therapeutic delay are needed, thereby improving the prognosis and survival of pediatric CVID patients. What is Known:• CVID is an umbrella diagnosis characterized by complex pathophysiology with an antibody deficiency as a common denominator.• It is a multifaceted disease characterized by marked genetic, immunological, and clinical heterogeneity.. What is New:• The diagnosis of pediatric CVID is challenging due to the immaturity of innate and adaptive immune response.• Increasing the pediatricians’ awareness of CVID for the early disease recognition, timely therapeutic intervention, and improving the prognosis is needed.

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CD40 Ligand Deficiency

Cited by 7 publications

References 41 publications

Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives

Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

The pediatric common variable immunodeficiency — from genetics to therapy: a review

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