Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.

Adaptor Proteins, Signal Transducing / genetics Adolescent Child Child, Preschool Egypt Female Humans Male Primary Immunodeficiency Diseases / genetics Registries Retrospective Studies Tunisia Turkey Vesicular Transport Proteins / genetics rab27 GTP-Binding Proteins / genetics
Autoimmune disorders Genetic Immune dysregulation Inborn errors of immunity Lymphoproliferation Primary immunodeficiency

Journal

Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537

Informations de publication

Date de publication:
11 2022
Historique:
received: 24 07 2022
revised: 20 09 2022
accepted: 21 09 2022
pubmed: 1 10 2022
medline: 13 10 2022
entrez: 30 9 2022
Statut: ppublish

Résumé

Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.

Identifiants

DOI: 10.1016/j.clim.2022.109131 PMID: 36179983
pubmed: 36179983
pii: S1521-6616(22)00212-1
doi: 10.1016/j.clim.2022.109131
pii:
doi:

Substances chimiques

Adaptor Proteins, Signal Transducing 0
LYST protein, human 0
Vesicular Transport Proteins 0
rab27 GTP-Binding Proteins 0
LRBA protein, human EC 2.7.10.-
RAB27A protein, human EC 3.6.1.-.

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

109131

Investigateurs

Seyed Erfan Rasouli (SE)
Marzie Esmaeili (M)
Reza Yazdani (R)
Samaneh Delavari (S)
Marzieh Tavakol (M)
Homa Sadri (H)
Abdollah Karimi (A)
Reza Shiari (R)
Samin Alavi (S)
Delara Babaie (D)
Peyman Eshghi (P)
Shahnaz Armin (S)
Ahmad Vosughimotlagh (A)
Sevgi Bilgic Eltan (SB)
Royala Babayeva (R)
Asena Pinar Sefer (AP)
Burcu Kolukisa (B)
Ezgi Yalcin Gungoren (EY)
Melek Yorgun Altunbas (MY)
Vafa Mammadova (V)

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors have no conflicts of interest to declare that are relevant to the content of this article.

Auteurs

Mahnaz Jamee (M)

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Gholamreza Azizi (G)

Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: azizi@abzums.ac.ir.

Safa Baris (S)

Marmara University School of Medicine, Division of Allergy and Immunology, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Marmara University School of Medicine, İstanbul, Turkey; Istanbul Jeffrey Modell Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.

Elif Karakoc-Aydiner (E)

Marmara University School of Medicine, Division of Allergy and Immunology, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Marmara University School of Medicine, İstanbul, Turkey; Istanbul Jeffrey Modell Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.

Ahmet Ozen (A)

Marmara University School of Medicine, Division of Allergy and Immunology, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Marmara University School of Medicine, İstanbul, Turkey; Istanbul Jeffrey Modell Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.

Sara Ş Kiliç (SŞ)

Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludağ University, Faculty of Medicine, Bursa, Turkey.

Hulya Kose (H)

Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludağ University, Faculty of Medicine, Bursa, Turkey.

Zahra Chavoshzadeh (Z)

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Seyed Alireza Mahdaviani (SA)

Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Tooba Momen (T)

Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute of Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Bibi Shahin Shamsian (BS)

Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mazdak Fallahi (M)

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Samin Sharafian (S)

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Nesrin Gülez (N)

Division of Pediatric Allergy and Immunology, University of Health Sciences, Dr. Behcet Uz Children's Education and Research Hospital, Izmir, Turkey.

Ayşe Aygun (A)

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Neslihan Edeer Karaca (NE)

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Necil Kutukculer (N)

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Nashat Al Sukait (N)

Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.

Tariq Al Farsi (T)

Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.

Salem Al-Tamemi (S)

Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

Nisreen Khalifa (N)

NBK Children's Hospital, Kuwait City, Kuwait.

Reda Shereen (R)

The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Dalia El-Ghoneimy (D)

The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Rasha El-Owaidy (R)

The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Nesrine Radwan (N)

The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Raed Alzyoud (R)

Allergy, Immunology, and Rheumatology, Queen Rania Children's Hospital, Amman, Jordan.

Mohamed-Ridha Barbouche (MR)

Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.

Imen Ben-Mustapha (I)

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Department of Immunology, Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia.

Najla Mekki (N)

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Department of Immunology, Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia.

Afef Rais (A)

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Department of Immunology, Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia.

Rachida Boukari (R)

Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, Algeria.

Reda Belbouab (R)

Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, Algeria.

Kamel Djenouhat (K)

Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, University of Algiers, Algiers, Algeria.

Azzeddine Tahiat (A)

Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, University of Algiers, Algiers, Algeria.

Souad Touri (S)

Department of Pediatrics, University Hospital of Blida, Blida, Algeria.

Gehad Elghazali (G)

Department of Immunology, Sheikh Khalifa Medical City- Union 71/Purehealth, and Faculty of Medicine, United Arab Emirates University, Al Ain, United Arab Emirates.

Suleiman Al-Hammadi (S)

College of Medicine, Mohammed Bin Rashid University for Medicine and Health Sciences, Dubai, United Arab Emirates.

Hiba Mohammed Shendi (HM)

Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

Amna Alkuwaiti (A)

Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

Brahim Belaid (B)

Department of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria.

Reda Djidjik (R)

Department of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria.

Hasibe Artac (H)

Division of Immunology and Allergy, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey.

Mehdi Adeli (M)

Allergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, Qatar.

Ali Sobh (A)

Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Marwa H Elnagdy (MH)

Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Sara A Bahgat (SA)

Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Gulnara Nasrullayeva (G)

Department Immunology Research Laboratory, Azerbaijan Medical University, Baku, Azerbaijan.

Janet Chou (J)

Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 Blackfan Circle, Karp, Building, Boston, Massachusetts, USA.

Nima Rezaei (N)

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Waleed Al-Herz (W)

Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait City, Kuwait; Allergy and Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait.

Raif S Geha (RS)

Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 Blackfan Circle, Karp, Building, Boston, Massachusetts, USA.

Hassan Abolhassani (H)

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, Sweden. Electronic address: hassan.abolhassani@ki.se.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › Clinical, immunological, molecular and...
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questionsmedicales.fr › Régions géographiques › Afrique › Afrique du Nord › Égypte › Clinical, immunological, molecular and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical, immunological, molecular and...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Clinical, immunological, molecular and...
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questionsmedicales.fr › Régions géographiques › Asie › Asie de l'Ouest › Moyen Orient › Turquie › Clinical, immunological, molecular and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Clinical, immunological, molecular and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Protéines G monomériques › Protéines G rab › Protéines rab27 liant le GTP › Clinical, immunological, molecular and...