Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing 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.
Zehra Busra AzizogluDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye.ORCID 0000-0001-5183-9015
Royala BabayevaThe Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, The Isil Berat Barlan Center for Translational Medicine, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Marmara University, Istanbul, Türkiye.ORCID 0000-0002-1044-2174
Zehra Sule HaskologluDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Türkiye.ORCID 0000-0002-2668-0441
Salim CanThe Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, The Isil Berat Barlan Center for Translational Medicine, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Marmara University, Istanbul, Türkiye.ORCID 0000-0003-3797-3001
Alper OzcanDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.ORCID 0000-0002-6100-1205
Hasret ErkmenDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Türkiye.ORCID 0009-0004-4911-4815
Can Berk LeblebiciDepartment of Medical Genetics, Ankara University Faculty of Medicine, Ankara, Türkiye.ORCID 0000-0001-8776-6604
Ebru YilmazDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.ORCID 0000-0003-4802-0986
Musa KarakukcuDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.ORCID 0000-0003-2015-3541
Mehmet KoseDivision of Pediatric Pulmonology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye.ORCID 0000-0002-3003-918X
Ozlem CanozDepartment of Pathology, Faculty of Medicine, Erciyes University, 38039, Kayseri, Türkiye.ORCID 0000-0002-0200-6970
Ahmet ÖzenThe Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, The Isil Berat Barlan Center for Translational Medicine, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Marmara University, Istanbul, Türkiye.ORCID 0000-0002-9065-1901
Elif Karakoc-AydinerThe Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, The Isil Berat Barlan Center for Translational Medicine, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Marmara University, Istanbul, Türkiye.ORCID 0000-0003-4150-5200
Serdar CeylanerIntergen, Genetic, Rare and Undiagnosed Diseases, Diagnosis and Research Center, Ankara, Türkiye.ORCID 0000-0003-2786-1911
Gülsüm GümüşDivision of Pediatric Radiology, Department of Radiology, Erciyes University Faculty of Medicine, Kayseri, Türkiye.ORCID 0000-0001-6860-1433
Huseyin PerDivision of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye.ORCID 0000-0001-9904-6479
Hakan GumusDivision of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye.ORCID 0000-0001-5896-074X
Halit CanatanDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye.ORCID 0000-0002-0978-8311
Figen DoguDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Türkiye.ORCID 0000-0002-7869-4941
Aydan IkinciogullariDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Türkiye.ORCID 0000-0003-1145-0843
Ekrem UnalDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey. drekremunal@yahoo.com.tr.ORCID 0000-0002-2691-4826
Safa BarisThe Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, The Isil Berat Barlan Center for Translational Medicine, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Marmara University, Istanbul, Türkiye. safabaris@hotmail.com.ORCID 0000-0002-4730-9422
Ahmet EkenDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Türkiye. ahmet.eken@gmail.com.ORCID 0000-0002-5816-0686
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown. Mutations were identified by whole exome sequencing. T-cell immunophenotyping, proliferation, migration, cytokine signaling, survival, and NK cell cytotoxicity were studied via flow cytometry-based assays, confocal microscopy, and real-time qPCR. CD4
Indexed as
ForminsKiller Cells, NaturalAdaptor Proteins, Signal TransducingChildChild, PreschoolCytokinesFemaleHumansImmunity, InnateImmunophenotypingJurkat CellsMaleMutationSignal TransductionT-LymphocytesAdaptor Proteins, Signal TransducingCytokinesDIAPH1 protein, humanForminsCytoskeletal defectsDIAPH1ImmunodeficiencyMacrothrombocytopenia
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.
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans. · full record | OpenQuestion