Evidence map›Paper›PMID 40411647›Full record

ArticleImmunologic research2025

A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.

Amirreza Taherkhani, Mahmood Gorjizad, Farzad Ahmadabadi, Mohammad Saberi, Samin Sharafian, Mehrnaz Mesdaghi, Samin Alavi, Ali Akbar Sayari, Samaneh Abdolahzadeh, Sahar Seraj and 2 more

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In one paragraph

Article in Immunologic research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Amirreza TaherkhaniStudent Research Committee, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.ORCID http://orcid.org/0000-0002-1936-6518
Mahmood GorjizadStudent Research Committee, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.ORCID http://orcid.org/0000-0001-6366-9527
Farzad AhmadabadiPediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.ORCID http://orcid.org/0000-0002-8738-4398
Mohammad SaberiDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran.
Samin SharafianDepartment of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
Mehrnaz MesdaghiDepartment of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
Samin AlaviPediatric Congenital Hematologic Disorders Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
Ali Akbar SayariDepartment of Pediatric Disease, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
Samaneh AbdolahzadehDepartment of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.ORCID http://orcid.org/0000-0002-5135-5499
Sahar SerajDepartment of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.ORCID http://orcid.org/0000-0001-7789-6018
Hamidreza HassanipourSchool of Pharmacy, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.
Zahra ChavoshzadehImmunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran. Zahra_Chavoshzadeh@yahoo.com.ORCID http://orcid.org/0000-0003-1869-8630

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Stromal interaction molecule 1 (STIM1) is a transmembrane protein located in the endoplasmic and sarcoplasmic reticulum, where it plays a crucial role in activating calcium release-activated calcium (CRAC) channels. It functions as a calcium (Ca

Indexed as

Immunologic Deficiency SyndromesMuscular DiseasesNeoplasm ProteinsSevere Combined ImmunodeficiencyStromal Interaction Molecule 1ChildExome SequencingHomozygoteHumansMaleMutation, MissenseNeoplasm ProteinsSTIM1 protein, humanStromal Interaction Molecule 1Combined immunodeficiencyCongenital myopathyCRACSOCESTIM1

Identifiers

PMID40411647

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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.