SynthesisJournal of clinical immunology2023
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Synthesis in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Cross-Phenotype Genome-Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- A Flow Cytometry-Based Assay to Quantify the Binding of Transmembrane Ligands to Their Cognate Receptors Using Fluorescent Virus-Like Particles.Bio-protocol · 2026Article
- A flow cytometry-based assay to quantify the binding of transmembrane ligands to their cognate receptors using fluorescent virus-like particles.bioRxiv : the preprint server for biology · 2026Article
- Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.The Journal of infectious diseases · 2026Article
- Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency.Journal of human immunity · 2026Article
- The Intertwining Between Arthritis and Inborn Errors of Immunity.Journal of clinical medicine · 2026Review
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Clinical applications and challenges of CD40/CD40L signaling regulation in autoimmune diseases.Frontiers in immunology · 2026Review
- Immune dysregulation drives the relapse of peritoneal dialysis-associated peritonitis: a single-center prospective study.Frontiers in immunology · 2026Article
- Pulmonary alveolar proteinosis andFrontiers in pediatrics · 2026Article
- Current infectious disease management challenges in inborn errors of immunity.Annals of clinical microbiology and antimicrobials · 2025Review
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- PON-P3: Accurate Prediction of Pathogenicity of Amino Acid Substitutions.International journal of molecular sciences · 2025Article
- Bufei Jiedu Formula enhances CD40 activation and macrophage polarization to eliminate intracellular MRSA persisters.Frontiers in immunology · 2025Article
- T-cell subsets inClinical & translational immunology · 2025Review
- Cross-Phenotype GWAS Supports Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.medRxiv : the preprint server for health sciences · 2024Article
- Inborn errors of immunity with susceptibility toFrontiers in pediatrics · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
purposeInherited deficiencies of CD40 and CD40 ligand (CD40L) reflect the crucial immunological functions of CD40-CD40L interaction/signaling. Although numerous studies have provided a detailed description of CD40L deficiency, reports of CD40 deficiency are scarce. Herein, we describe the characteristics of all reported patients with CD40 deficiency.
methodsThe PubMed, Embase and Web of Science databases were searched for relevant literature published till 7th August 2023. Study deduplication and identification of relevant reports was performed using the online PICO Portal. The data were extracted using a pre-designed data extraction form and the SPSS software was used for analysis.
resultsSystematic literature review revealed 40 unique patients with CD40 deficiency. Respiratory tract and gastrointestinal infections were the predominant clinical manifestations (observed in 93% and 57% patients, respectively). Sclerosing cholangitis has been reported in nearly one-third of patients. Cryptosporidium sp. (29%) and Pneumocystis jirovecii (21%) were the most common microbes identified. Very low to undetectable IgG levels and severely reduced/absent switch memory B cells were observed in all patients tested/reported. Elevated IgM levels were observed in 69% patients. Overall, splice-site and missense variants were the most common (36% and 32%, respectively) molecular defects identified. All patients were managed with immunoglobulin replacement therapy and antimicrobial prophylaxis was utilized in a subset. Hematopoietic stem cell transplantation (HSCT) has been performed in 45% patients (curative outcome observed in 73% of these patients). Overall, a fatal outcome was reported in 21% patients.
conclusionsWe provide a comprehensive description of all important aspects of CD40 deficiency. HSCT is a promising curative treatment option for CD40 deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.