PMID- 36179983
OWN - NLM
STAT- MEDLINE
DCOM- 20221012
LR  - 20230407
IS  - 1521-7035 (Electronic)
IS  - 1521-6616 (Linking)
VI  - 244
DP  - 2022 Nov
TI  - Clinical, immunological, molecular and therapeutic findings in monogenic immune 
      dysregulation diseases: Middle East and North Africa registry.
PG  - 109131
LID - S1521-6616(22)00212-1 [pii]
LID - 10.1016/j.clim.2022.109131 [doi]
AB  - 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.
CI  - Copyright (c) 2022 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Jamee, Mahnaz
AU  - Jamee M
AD  - 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.
FAU - Azizi, Gholamreza
AU  - Azizi G
AD  - 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.
FAU - Baris, Safa
AU  - Baris S
AD  - 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FAU - Karakoc-Aydiner, Elif
AU  - Karakoc-Aydiner E
AD  - 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FAU - Ozen, Ahmet
AU  - Ozen A
AD  - 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FAU - Kilic, Sara S
AU  - Kilic SS
AD  - Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludag 
      University, Faculty of Medicine, Bursa, Turkey.
FAU - Kose, Hulya
AU  - Kose H
AD  - Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludag 
      University, Faculty of Medicine, Bursa, Turkey.
FAU - Chavoshzadeh, Zahra
AU  - Chavoshzadeh Z
AD  - Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti 
      University of Medical Sciences, Tehran, Iran.
FAU - Mahdaviani, Seyed Alireza
AU  - Mahdaviani SA
AD  - Pediatric Respiratory Diseases Research Center, National Research Institute of 
      Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical 
      Sciences, Tehran, Iran.
FAU - Momen, Tooba
AU  - Momen T
AD  - 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.
FAU - Shamsian, Bibi Shahin
AU  - Shamsian BS
AD  - Pediatric Congenital Hematologic Disorders Research Center, Research Institute 
      for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, 
      Iran.
FAU - Fallahi, Mazdak
AU  - Fallahi M
AD  - Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti 
      University of Medical Sciences, Tehran, Iran.
FAU - Sharafian, Samin
AU  - Sharafian S
AD  - Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti 
      University of Medical Sciences, Tehran, Iran.
FAU - Gulez, Nesrin
AU  - Gulez N
AD  - Division of Pediatric Allergy and Immunology, University of Health Sciences, Dr. 
      Behcet Uz Children's Education and Research Hospital, Izmir, Turkey.
FAU - Aygun, Ayse
AU  - Aygun A
AD  - Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
FAU - Karaca, Neslihan Edeer
AU  - Karaca NE
AD  - Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
FAU - Kutukculer, Necil
AU  - Kutukculer N
AD  - Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
FAU - Al Sukait, Nashat
AU  - Al Sukait N
AD  - Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, 
      Muscat, Oman.
FAU - Al Farsi, Tariq
AU  - Al Farsi T
AD  - Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, 
      Muscat, Oman.
FAU - Al-Tamemi, Salem
AU  - Al-Tamemi S
AD  - Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
FAU - Khalifa, Nisreen
AU  - Khalifa N
AD  - NBK Children's Hospital, Kuwait City, Kuwait.
FAU - Shereen, Reda
AU  - Shereen R
AD  - The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain 
      Shams University, Cairo, Egypt.
FAU - El-Ghoneimy, Dalia
AU  - El-Ghoneimy D
AD  - The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain 
      Shams University, Cairo, Egypt.
FAU - El-Owaidy, Rasha
AU  - El-Owaidy R
AD  - The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain 
      Shams University, Cairo, Egypt.
FAU - Radwan, Nesrine
AU  - Radwan N
AD  - The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain 
      Shams University, Cairo, Egypt.
FAU - Alzyoud, Raed
AU  - Alzyoud R
AD  - Allergy, Immunology, and Rheumatology, Queen Rania Children's Hospital, Amman, 
      Jordan.
FAU - Barbouche, Mohamed-Ridha
AU  - Barbouche MR
AD  - Institut Pasteur de Tunis, Universite Tunis El Manar, Tunis, Tunisia.
FAU - Ben-Mustapha, Imen
AU  - Ben-Mustapha I
AD  - Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), 
      Department of Immunology, Institut Pasteur de Tunis and University Tunis El 
      Manar, Tunis, Tunisia.
FAU - Mekki, Najla
AU  - Mekki N
AD  - Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), 
      Department of Immunology, Institut Pasteur de Tunis and University Tunis El 
      Manar, Tunis, Tunisia.
FAU - Rais, Afef
AU  - Rais A
AD  - Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), 
      Department of Immunology, Institut Pasteur de Tunis and University Tunis El 
      Manar, Tunis, Tunisia.
FAU - Boukari, Rachida
AU  - Boukari R
AD  - Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, 
      Algeria.
FAU - Belbouab, Reda
AU  - Belbouab R
AD  - Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, 
      Algeria.
FAU - Djenouhat, Kamel
AU  - Djenouhat K
AD  - Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, 
      University of Algiers, Algiers, Algeria.
FAU - Tahiat, Azzeddine
AU  - Tahiat A
AD  - Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, 
      University of Algiers, Algiers, Algeria.
FAU - Touri, Souad
AU  - Touri S
AD  - Department of Pediatrics, University Hospital of Blida, Blida, Algeria.
FAU - Elghazali, Gehad
AU  - Elghazali G
AD  - Department of Immunology, Sheikh Khalifa Medical City- Union 71/Purehealth, and 
      Faculty of Medicine, United Arab Emirates University, Al Ain, United Arab 
      Emirates.
FAU - Al-Hammadi, Suleiman
AU  - Al-Hammadi S
AD  - College of Medicine, Mohammed Bin Rashid University for Medicine and Health 
      Sciences, Dubai, United Arab Emirates.
FAU - Shendi, Hiba Mohammed
AU  - Shendi HM
AD  - Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
FAU - Alkuwaiti, Amna
AU  - Alkuwaiti A
AD  - Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
FAU - Belaid, Brahim
AU  - Belaid B
AD  - Department of Medical Immunology, University Hospital Center of Beni Messous, 
      University of Algiers, Algiers, Algeria.
FAU - Djidjik, Reda
AU  - Djidjik R
AD  - Department of Medical Immunology, University Hospital Center of Beni Messous, 
      University of Algiers, Algiers, Algeria.
FAU - Artac, Hasibe
AU  - Artac H
AD  - Division of Immunology and Allergy, Department of Pediatrics, Selcuk University 
      Faculty of Medicine, Konya, Turkey.
FAU - Adeli, Mehdi
AU  - Adeli M
AD  - Allergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, 
      Qatar.
FAU - Sobh, Ali
AU  - Sobh A
AD  - Department of Pediatrics, Mansoura University Children's Hospital, Faculty of 
      Medicine, Mansoura University, Mansoura, Egypt.
FAU - Elnagdy, Marwa H
AU  - Elnagdy MH
AD  - Department of Pediatrics, Mansoura University Children's Hospital, Faculty of 
      Medicine, Mansoura University, Mansoura, Egypt.
FAU - Bahgat, Sara A
AU  - Bahgat SA
AD  - Department of Pediatrics, Mansoura University Children's Hospital, Faculty of 
      Medicine, Mansoura University, Mansoura, Egypt.
FAU - Nasrullayeva, Gulnara
AU  - Nasrullayeva G
AD  - Department Immunology Research Laboratory, Azerbaijan Medical University, Baku, 
      Azerbaijan.
FAU - Chou, Janet
AU  - Chou J
AD  - Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 
      Blackfan Circle, Karp, Building, Boston, Massachusetts, USA.
FAU - Rezaei, Nima
AU  - Rezaei N
AD  - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, 
      Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FAU - Al-Herz, Waleed
AU  - Al-Herz W
AD  - 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.
FAU - Geha, Raif S
AU  - Geha RS
AD  - Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 
      Blackfan Circle, Karp, Building, Boston, Massachusetts, USA.
FAU - Abolhassani, Hassan
AU  - Abolhassani H
AD  - 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.
CN  - MENA-I. E. I. Study Group
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220927
PL  - United States
TA  - Clin Immunol
JT  - Clinical immunology (Orlando, Fla.)
JID - 100883537
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (LYST protein, human)
RN  - 0 (Vesicular Transport Proteins)
RN  - 0 (rab27 GTP-Binding Proteins)
RN  - EC 2.7.10.- (LRBA protein, human)
RN  - EC 3.6.1.-. (RAB27A protein, human)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Egypt
MH  - Female
MH  - Humans
MH  - Male
MH  - *Primary Immunodeficiency Diseases/genetics
MH  - Registries
MH  - Retrospective Studies
MH  - Tunisia
MH  - Turkey
MH  - Vesicular Transport Proteins/genetics
MH  - rab27 GTP-Binding Proteins/genetics
OTO - NOTNLM
OT  - Autoimmune disorders
OT  - Genetic
OT  - Immune dysregulation
OT  - Inborn errors of immunity
OT  - Lymphoproliferation
OT  - Primary immunodeficiency
COIS- Declaration of Competing Interest The authors have no conflicts of interest to 
      declare that are relevant to the content of this article.
FIR - Rasouli, Seyed Erfan
IR  - Rasouli SE
IRAD- Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, 
      Karaj, Iran.
FIR - Esmaeili, Marzie
IR  - Esmaeili M
IRAD- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, 
      Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FIR - Yazdani, Reza
IR  - Yazdani R
IRAD- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, 
      Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FIR - Delavari, Samaneh
IR  - Delavari S
IRAD- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, 
      Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FIR - Tavakol, Marzieh
IR  - Tavakol M
IRAD- Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, 
      Karaj, Iran.
FIR - Sadri, Homa
IR  - Sadri H
IRAD- Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, 
      Karaj, Iran.
FIR - Karimi, Abdollah
IR  - Karimi A
IRAD- Pediatric Infections Research Center, Research Institute for Children's Health, 
      Shahid Beheshti University of Medical Sciences, Tehran, Iran.
FIR - Shiari, Reza
IR  - Shiari R
IRAD- Department of Pediatric Rheumatology, Mofid Children's Hospital, Shahid Beheshti 
      University of Medical Sciences, Tehran, Iran.
FIR - Alavi, Samin
IR  - Alavi S
IRAD- Pediatric Congenital Hematologic Disorders Research Center, Research Institute 
      for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, 
      Iran.
FIR - Babaie, Delara
IR  - Babaie D
IRAD- Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti 
      University of Medical Sciences, Tehran, Iran.
FIR - Eshghi, Peyman
IR  - Eshghi P
IRAD- Pediatric Congenital Hematologic Disorders Research Center, Research Institute 
      for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, 
      Iran.
FIR - Armin, Shahnaz
IR  - Armin S
IRAD- Pediatric Infections Research Center, Research Institute for Children's Health, 
      Shahid Beheshti University of Medical Sciences, Tehran, Iran.
FIR - Vosughimotlagh, Ahmad
IR  - Vosughimotlagh A
IRAD- Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, 
      Iran.
FIR - Eltan, Sevgi Bilgic
IR  - Eltan SB
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Babayeva, Royala
IR  - Babayeva R
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Sefer, Asena Pinar
IR  - Sefer AP
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Kolukisa, Burcu
IR  - Kolukisa B
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Gungoren, Ezgi Yalcin
IR  - Gungoren EY
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Altunbas, Melek Yorgun
IR  - Altunbas MY
IRAD- 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, Istanbul, Turkey; Istanbul Jeffrey Modell 
      Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey.
FIR - Mammadova, Vafa
IR  - Mammadova V
IRAD- Department Immunology Research Laboratory, Azerbaijan Medical University, Baku, 
      Azerbaijan.
EDAT- 2022/10/01 06:00
MHDA- 2022/10/13 06:00
CRDT- 2022/09/30 19:36
PHST- 2022/07/24 00:00 [received]
PHST- 2022/09/20 00:00 [revised]
PHST- 2022/09/21 00:00 [accepted]
PHST- 2022/10/01 06:00 [pubmed]
PHST- 2022/10/13 06:00 [medline]
PHST- 2022/09/30 19:36 [entrez]
AID - S1521-6616(22)00212-1 [pii]
AID - 10.1016/j.clim.2022.109131 [doi]
PST - ppublish
SO  - Clin Immunol. 2022 Nov;244:109131. doi: 10.1016/j.clim.2022.109131. Epub 2022 Sep 
      27.