ArticleFrontiers in immunology2019
First Case of Patient With Two Homozygous Mutations in
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 24 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Reply to the Letter: "Non-Syndromic elevated IgE": In reply to: Özdemir Ö. Non-syndromic elevated IgE. World Allergy Organization Journal 2026; 19:101420. Concerning: Castagnoli R, Pecoraro L, Mastrorilli C, et al. Non-syndromic hyper-IgE in children: a practical approach. World Allergy Organization Journal 2026; 19(3):101346.The World Allergy Organization journal · 2026Article
- Non-syndromic elevated IgE.The World Allergy Organization journal · 2026Article
- Secondary fungal infections in severe acute viral diseases: clinical features and underlying immune mechanisms.Frontiers in microbiology · 2026Review
- CARD9 Mutations in Patients with Invasive Fungal Infections.Mycopathologia · 2025Article
- Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion inLife (Basel, Switzerland) · 2024Article
- Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.The Journal of experimental medicine · 2023Article
- Dendritic cells in inborn errors of immunity.Frontiers in immunology · 2023Review
- Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.The Journal of experimental medicine · 2022Article
- CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.Journal of clinical immunology · 2022Article
- Anti-viral and pro-inflammatory functions of Toll-like receptors during gamma-herpesvirus infections.Virology journal · 2021Review
- Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.Journal of clinical immunology · 2021Article
- Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.The World Allergy Organization journal · 2021Review
- Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.Frontiers in immunology · 2019Article
- All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing.Frontiers in immunology · 2019Article
- Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.Frontiers in immunology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We described for the first time a female patient with the simultaneous presence of two homozygous mutations in
Indexed as
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What OpenQuestion holds
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.