Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Autor: Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Kiaee F; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Tavakol M; Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Chavoshzadeh Z; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Mahdaviani SA; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Momen T; Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Yazdani R; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Azizi G; Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran., Habibi S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Gharagozlou M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Movahedi M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Hamidieh AA; Hematology, Oncology and Stem Cell Transplantation Research Centre, Tehran University of Medical Sciences, Tehran, Iran., Behniafard N; Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Nabavi M; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Bemanian MH; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Arshi S; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Molatefi R; Department of Pediatrics, Bo-Ali children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran., Sherkat R; Acquired Immunodeficiency Research Center, lsfahan University of Medical Sciences, Isfahan, Iran., Shirkani A; Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran., Amin R; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Aleyasin S; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Faridhosseini R; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Jabbari-Azad F; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Mohammadzadeh I; Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran., Ghaffari J; Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran., Shafiei A; Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran., Kalantari A; Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran., Mansouri M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran., Mesdaghi M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran., Babaie D; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ahanchian H; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Khoshkhui M; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Soheili H; Department of Pediatrics, School of Medicine, Arak University of Medical Sciences, Arak, Iran., Eslamian MH; Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran., Cheraghi T; Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran., Dabbaghzadeh A; Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran.; Department of Allergy and Clinical Immunology, Pediatric Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran., Tavassoli M; Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Kalmarzi RN; Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran., Mortazavi SH; Department of Pediatrics, Kermanshah University of Medical Sciences, Kermanshah, Iran., Kashef S; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Esmaeilzadeh H; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tafaroji J; Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran., Khalili A; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Zandieh F; Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran., Sadeghi-Shabestari M; Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran., Darougar S; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Behmanesh F; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Akbari H; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Zandkarimi M; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Abolnezhadian F; Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran., Fayezi A; Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran., Moghtaderi M; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ahmadiafshar A; Mousavi Hospital, Zanjan University of Meical Sciences, Zanjan, Iran., Shakerian B; Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Sajedi V; Department of Immunology and Allergy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Taghvaei B; Department of Immunology and Allergy, Semnan University of Medical Sciences, Semnan, Iran., Safari M; Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran., Heidarzadeh M; Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran., Ghalebaghi B; Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran., Fathi SM; Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran., Darabi B; Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran., Bazregari S; Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran., Bazargan N; Department of Immunology and Allergy, Kerman University of Medical Sciences, Kerman, Iran., Fallahpour M; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Khayatzadeh A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran., Javahertrash N; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Bashardoust B; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Zamani M; Department of Immunology and Allergy, Shahrekord University of Medical Sciences, Shahrekord, Iran., Mohsenzadeh A; Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, Iran., Ebrahimi S; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Sharafian S; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Vosughimotlagh A; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Tafakoridelbari M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Rahimi M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Ashournia P; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Razaghian A; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran, University of Medical Sciences, Tehran, Iran., Rezaei A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Mamishi S; Pediatric Infectious Diseases Research Center, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Parvaneh N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Rezaei N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran., Hammarström L; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden., Aghamohammadi A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. aghamohammadi@tums.ac.ir.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran. aghamohammadi@tums.ac.ir.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2018 Oct; Vol. 38 (7), pp. 816-832. Date of Electronic Publication: 2018 Oct 09.
DOI: 10.1007/s10875-018-0556-1
Abstrakt: Background: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.
Method: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.
Results: Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.
Conclusions: During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.
Databáze: MEDLINE
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