ArticleJournal of clinical immunology2016
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.Journal of clinical immunology · 2023Pooled it
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Article
- How I Treat: Infections and inborn errors of immunity-Prevention, diagnosis, and treatment.Journal of human immunity · 2026Review
- Pulmonary alveolar proteinosis andFrontiers in pediatrics · 2026Article
- X-linked hyper-IgM syndrome presenting as severeFrontiers in immunology · 2026Article
- Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.Journal of translational autoimmunity · 2025Review
- A novel CD40LG mutation causing X‑linked hyper-IgM syndrome.Global medical genetics · 2025Article
- Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry.Frontiers in immunology · 2025Article
- A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.Immunogenetics · 2024Article
- Human-Fungal Pathogen Interactions from the Perspective of Immunoproteomics Analyses.International journal of molecular sciences · 2024Review
- The Parasitism and Tumors Carcinogenesis: A Review Subject.Acta parasitologica · 2024Review
- Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.The Pan African medical journal · 2024Article
- Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.Journal of clinical medicine · 2023Review
- Autoimmunity in Primary Immunodeficiencies (PID).Clinical reviews in allergy & immunology · 2023Review
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.Clinical and experimental medicine · 2023Article
- Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.Journal of fungi (Basel, Switzerland) · 2023Review
- Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency.Journal of clinical immunology · 2022Article
Corrections and comments
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Authors and funding
17 authors at 13 institutions in 1 country.
Funding
Abstract
purposeThe United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM).
methodsThe USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality.
resultsFifty-two physicians entered data from 145 patients of ages 2 months to 62 years (median 12 years); 131 were males. Using patients' age at last entry, data from 2072 patient years are included. Mutations were recorded for 85 subjects; 82 were in CD40LG. Eighteen subjects had non-X-linked HIGM. 40 % had a normal serum IgM and 15 %, normal IgA. Infections were reported for 91 %, with pulmonary, ear, and sinus infections being the most common. 42 % had Pneumocystis jirovecii pneumonia; 6 % had Cryptosporidium. 41 % had neutropenia. 78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD, an ovarian dysgerminoma. Thirteen patients had a hematopoietic marrow or stem cell transplant; three had solid organ transplants. Thirteen were known to have died (median age = 14 years).
conclusionsAnalysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.
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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.