ArticleClinical case reports2025
Normal Immune Function in a Newborn With Early Identification of a
Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- Structural mechanisms of SAMD9 autoinhibition and pathogenic dysregulation.Science advances · 2026Article
- Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.bioRxiv : the preprint server for biology · 2026Article
- Normal Immune Function in a Newborn With Early Identification of aClinical case reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
MIRAGE syndrome is a multi-organ disease caused by gain-of-function (GOF) mutations in the viral restriction factor SAMD9. Herein, we present the case of a 32-week pre-term female neonate with severe intrauterine growth restriction, primary adrenal insufficiency, and persistent thrombocytopenia. A rapid trio-whole exome sequencing at 23-days of age found a de novo SAMD9 G1048R mutation, consistent with a diagnosis of MIRAGE syndrome, and at this time was not found to have evidence of immune abnormalities or hematologic malignancy. Analysis of predicted tertiary structures from our patient's SAMD9 G1048R mutation demonstrated structural similarities to known SAMD9 GOF variants. Absence of immunologic and oncologic manifestations in this patient may relate to early identification and reflect low SAMD9 expression during the neonatal window. Risk for developing immune deficiency and malignancy may continue to increase as this patient grows older, thus requiring close outpatient surveillance to mitigate future risk of these complications.
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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.