Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.

Autor:	Asgardoon MH; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Azizi G; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Yazdani R; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran., Sohani M; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Pashangzadeh S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Kalantari A; Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran., Shariat M; Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Shafiei A; Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran., Salami F; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Jamee M; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Rasouli SE; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Mohammadi J; Department of Life Science, Faculty of New Science and Technology, University of Tehran, Tehran, Iran., Hassanpour G; Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, 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 Disease 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 Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, 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, Isfahan University of Medical Sciences, Isfahan, Iran., Shirkani A; Allergy and Clinical Immunology Department, Bushehr University of Medical Sciences, School of Medicine, Bushehr, Iran., Alyasin S; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Jabbari-Azad F; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ghaffari J; Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran., Mesdaghi M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, 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., Eslamian MH; Department of Pediatrics, Hamedan University of Medical Sciences, Hamedan, Iran., Cheraghi T; Department of Pediatrics, 17 Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran., Dabbaghzadeh A; Department of Allergy and Clinical Immunology, Pediatrics Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran., Nasiri Kalmarzi R; Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, 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., Sadeghi-Shabestari M; Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran., Darougar S; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Moghtaderi M; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Ahmadiafshar A; Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran., Shakerian B; Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Heidarzadeh M; Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran., Ghalebaghi B; Department of Pediatrics, 17 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., Fallahpour M; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, 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 Excellences, 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 Excellences, 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 Excellences, 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 Excellences, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Rahimi Haji-Abadi M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, 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 Excellences, 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 Excellences, 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, Tehran University of Medical Science, Tehran, Iran., Delavari S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Shirmast P; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Babaha F; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Samavat A; Genetics Office, Centers for Disease Control and Prevention (CDC), Ministry of Health of Iran, Tehran, Iran., Mamishi S; Pediatric Infectious Diseases Research Center, Tehran University of Medical, Sciences, Tehran, Iran., Khazaei HA; Clinical Immunology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., Negahdari B; Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran., Rezaei N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Abolhassani H; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran.; Research Center for Primary Immunodeficiency, Iran University of Medical Sciences, Tehran, Iran.; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at the Karolinska University Hospital Huddinge, Stockholm, Sweden., Aghamohammadi A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran, aghamohammadi@sina.tums.ac.ir.; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran, aghamohammadi@sina.tums.ac.ir.
Jazyk:	angličtina
Zdroj:	International archives of allergy and immunology [Int Arch Allergy Immunol] 2020; Vol. 181 (9), pp. 706-714. Date of Electronic Publication: 2020 Jul 02.
DOI:	10.1159/000508817
Abstrakt:	Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis. Methods: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Whole-exome sequencing and confirmatory Sanger sequencing methods were used for the study population. A questionnaire was retrospectively filled for all patients to evaluate demographic, laboratory, clinical, and genetic data. Results: In the 27 studied patients, 11 different genetic defects were identified, and the most common mutated gene was LRBA, reported in 17 (63.0%) patients. Two patients (7.7%) showed autoimmune complications as the first presentation of immunodeficiency. Eleven patients (40.7%) developed one type of autoimmunity, and 16 patients (59.3%) progressed to poly-autoimmunity. Most of the patients with mono-autoimmunity (n = 9, 90.0%) primarily developed infectious complications, while in patients with poly-autoimmunity, the most common first presentation was enteropathy (n = 6, 37.6%). In 13 patients (61.9%), the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency. The most frequent autoimmune manifestations were hematologic (40.7%), gastrointestinal (48.1%), rheumatologic (25.9%), and dermatologic (22.2%) disorders. Patients with poly-autoimmunity had lower regulatory T cells than patients with mono-autoimmunity. Conclusion: In our cohort, the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency in most patients. This association highlights the fact that patients referring with autoimmune manifestations should be evaluated for humoral immunity. (© 2020 S. Karger AG, Basel.)
Databáze:	MEDLINE
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