Evidence map›Paper›PMID 34052995›Full record

ArticleJournal of clinical immunology2021

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.

Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani, Samaneh Delavari, Necil Kutukculer, Ezgi Topyildiz, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner, Sara Sebnem Kilic and 37 more

Open access · hybridAbstract readConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 2 pooled it
4.4field-weighted citation impact, top 4% of its field
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

47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 73 citations in OpenAlex.

  1. Pooled it
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  17. Dual cancers in Ataxia-Telangiectasia: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  18. Article
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  20. Health disparities in the Middle East: Representative analysis of the region.The journal of allergy and clinical immunology. Global · 2025
    Review
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

47 authors at 20 institutions in 14 countries.

Asghar AghamohammadiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Nima RezaeiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Reza YazdaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Samaneh DelavariResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Necil KutukculerDepartment of Pediatric Immunology, Ege University Faculty of Medicine, Bornova-İzmir, Turkey.
Ezgi TopyildizDepartment of Pediatric Immunology, Ege University Faculty of Medicine, Bornova-İzmir, Turkey.
Ahmet OzenFaculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Safa BarisFaculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Elif Karakoc-AydinerFaculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Sara Sebnem KilicUludag University, Medical Faculty, Department of Pediatric Immunology and Rheumatology, Bursa, Turkey.
Hulya KoseUludag University, Medical Faculty, Department of Pediatric Immunology and Rheumatology, Bursa, Turkey.
Nesrin GulezDepartment of Pediatric Immunology and Allergy, University of Health Sciences Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Ferah GenelDepartment of Pediatric Immunology and Allergy, University of Health Sciences Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Ismail ReisliDepartment of Pediatric Immunology and Allergy, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Kamel DjenouhatLaboratory of Immunology, Department of Medical Biology, Rouiba Hospital, Algiers, Algeria.
Azzeddine TahiatLaboratory of Immunology, Department of Medical Biology, Rouiba Hospital, Algiers, Algeria.
Rachida BoukariDepartment of Pediatrics, Mustapha Pacha University Hospital, University of Algiers, Algiers, Algeria.
Samir LadjDepartment of Pediatrics, Mustapha Pacha University Hospital, University of Algiers, Algiers, Algeria.
Reda BelbouabDepartment of Pediatrics, Mustapha Pacha University Hospital, University of Algiers, Algiers, Algeria.
Yacine FerhaniDepartment of Pediatrics, Mustapha Pacha University Hospital, University of Algiers, Algiers, Algeria.
Brahim BelaidDepartment of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria.
Reda DjidjikDepartment of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria.
Nadia KechoutDepartment of Immunology, Pasteur Institute of Algeria/Faculty of Medicine, Algiers, Algeria.
Nabila AttalDepartment of Immunology, Pasteur Institute of Algeria/Faculty of Medicine, Algiers, Algeria.
Khalissa SaidaniDepartment of Immunology, Pasteur Institute of Algeria/Faculty of Medicine, Algiers, Algeria.
Ridha BarboucheInstitut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.
Aziz BousfihaLaboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
Ali SobhDepartment of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Ragheed RizkDepartment of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Marwa H ElnagdyDepartment of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Mona Al-AhmedDepartment of Microbiology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Salem Al-TamemiDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Gulnara NasrullayevaDepartment Immunology Research Laboratory, Azerbaijan Medical University, Baku, Azerbaijan.
Mehdi AdeliAllergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, Qatar.
Maryam Al-NesfAllergy and Immunology Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar.
Amel HassenAllergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, Qatar.
Cybel MehawejDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Carla IraniInternal Medicine and Clinical Immunology, Hotel Dieu de France Hospital, Saint Joseph University, Beirut, Lebanon.
Andre MegarbaneDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Jessica QuinnJeffrey Modell Foundation (JMF), New York City, NY, USA.
MENA-I. E. I. Study Group
László MaródiPID Clinical Unit and Laboratory, Department of Dermatology, Semmelweis University, Budapest, Hungary.
Vicki ModellJeffrey Modell Foundation (JMF), New York City, NY, USA.
Fred ModellJeffrey Modell Foundation (JMF), New York City, NY, USA.
Waleed Al-HerzDepartment of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, PO Box 24923, Kuwait City, Kuwait. wemh@hotmail.com.
Raif S GehaDivision of Immunology, Boston Children's Hospital and Harvard Medical School, 1 Blackfan Circle, Karp, Bldg, 10th Floor, Boston, MA, 02115, USA. raif.geha@childrens.harvard.edu.
Hassan AbolhassaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. hassan.abolhassani@ki.se.ORCID 0000-0002-4838-0407
Children's Medical Center · IRBursa Uludağ Üni̇versi̇tesi̇ · TRChildren's Hospital Mansoura University · EGEge University · TRInstitut Pasteur d'Algérie · DZMarmara University · TRBoston Children's Hospital · USHamad Medical Corporation · QAJeffrey Modell Foundation · USKuwait University · KWLebanese American University · LBSağlık Bilimleri Üniversitesi · TRSemmelweis University · HUUniversity of Algiers Benyoucef Benkhedda · DZUniversity of Bouira · DZAzerbaijan Medical University · AZInstitut Pasteur de Tunis · TNKarolinska University Hospital · SEMansoura University · EGNecmettin Erbakan University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis.

methodsWe analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers.

resultsWe identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG).

conclusionsThis comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.

Indexed as

AdolescentAdultAfrica, NorthernAgedChildDisability-Adjusted Life YearsFemaleGenetic Diseases, InbornHumansMaleMiddle AgedMiddle EastPrimary Immunodeficiency DiseasesRegistriesYoung AdultBurden of diseaseEpidemiologyInborn errors of immunityMolecular diagnosisPrimary immunodeficiency

Identifiers

PMID34052995
PMCPMC8310844
OpenAlexW3165749521

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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.