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

Jamee M 1 , Azizi G 2 , Baris S 3 , Karakoc-Aydiner E 3 , Ozen A 3 , Kiliç SŞ 4 Show all authors , Kose H 4 , Chavoshzadeh Z 5 , Mahdaviani SA 6 , Momen T 7 , Shamsian BS 8 , Fallahi M 5 , Sharafian S 5 , Gülez N 9 , Aygun A 10 , Karaca NE 10 , Kutukculer N 10 , Al Sukait N 11 , Al Farsi T 11 , Al-Tamemi S 12 , Khalifa N 13 , Shereen R 14 , El-Ghoneimy D 14 , El-Owaidy R 14 , Radwan N 14 , Alzyoud R 15 , Barbouche MR 16 , Ben-Mustapha I 17 , Mekki N 17 , Rais A 17 , Boukari R 18 , Belbouab R 18 , Djenouhat K 19 , Tahiat A 19 , Touri S 20 , Elghazali G 21 , Al-Hammadi S 22 , Shendi HM 23 , Alkuwaiti A 23 , Belaid B 24 , Djidjik R 24 , Artac H 25 , Adeli M 26 , Sobh A 27 , Elnagdy MH 27 , Bahgat SA 27 , Nasrullayeva G 28 , Chou J 29 , Rezaei N 30 , Al-Herz W 31 , Geha RS 29 , Abolhassani H 32 , MENA-I. E. I. Study Group

Affiliations 

  • 1 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
  • 2 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
  • 3 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
  • 4 Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludağ University, Faculty of Medicine, Bursa, Turkey
  • 5 Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • 6 Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • 7 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
  • 8 Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • 9 Division of Pediatric Allergy and Immunology, University of Health Sciences, Dr. Behcet Uz Children's Education and Research Hospital, Izmir, Turkey
  • 10 Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
  • 11 Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman
  • 12 Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
  • 13 NBK Children's Hospital, Kuwait City, Kuwait
  • 14 The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt
  • 15 Allergy, Immunology, and Rheumatology, Queen Rania Children's Hospital, Amman, Jordan
  • 16 Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia
  • 17 Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Department of Immunology, Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia
  • 18 Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, Algeria
  • 19 Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, University of Algiers, Algiers, Algeria
  • 20 Department of Pediatrics, University Hospital of Blida, Blida, Algeria
  • 21 Department of Immunology, Sheikh Khalifa Medical City- Union 71/Purehealth, and Faculty of Medicine, United Arab Emirates University, Al Ain, United Arab Emirates
  • 22 College of Medicine, Mohammed Bin Rashid University for Medicine and Health Sciences, Dubai, United Arab Emirates
  • 23 Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
  • 24 Department of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria
  • 25 Division of Immunology and Allergy, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey
  • 26 Allergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, Qatar
  • 27 Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt
  • 28 Department Immunology Research Laboratory, Azerbaijan Medical University, Baku, Azerbaijan
  • 29 Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 Blackfan Circle, Karp, Building, Boston, Massachusetts, USA
  • 30 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  • 31 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
  • 32 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
Clin Immunol, 2022 Nov;244:109131.
PMID: 36179983 DOI: 10.1016/j.clim.2022.109131

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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