Your browser doesn't support javascript.
loading
Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity.
Azizi, Gholamreza; Tavakol, Marzieh; Yazdani, Reza; Delavari, Samaneh; Moeini Shad, Tannaz; Rasouli, Seyed Erfan; Jamee, Mahnaz; Pashangzadeh, Salar; Kalantari, Arash; Shariat, Mansoureh; Shafiei, Alireza; Mohammadi, Javad; Hassanpour, Gholamreza; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Momen, Tooba; Behniafard, Nasrin; Nabavi, Mohammad; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Shirkani, Afshin; Alyasin, Soheila; Jabbari-Azad, Farahzad; Ghaffari, Javad; Mesdaghi, Mehrnaz; Ahanchian, Hamid; Khoshkhui, Maryam; Eslamian, Mohammad Hossein; Cheraghi, Taher; Dabbaghzadeh, Abbas; Nasiri Kalmarzi, Rasoul; Esmaeilzadeh, Hossein; Tafaroji, Javad; Khalili, Abbas; Sadeghi-Shabestari, Mahnaz; Darougar, Sepideh; Moghtaderi, Mojgan; Ahmadiafshar, Akefeh; Shakerian, Behzad; Heidarzadeh, Marzieh; Ghalebaghi, Babak; Fathi, Seyed Mohammad; Darabi, Behzad; Fallahpour, Morteza; Mohsenzadeh, Azam; Ebrahimi, Sarehsadat; Sharafian, Samin; Vosughimotlagh, Ahmad.
  • Azizi G; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
  • Tavakol M; 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.
  • Delavari S; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran.
  • Moeini Shad T; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
  • Rasouli SE; 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.
  • Pashangzadeh S; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
  • Kalantari A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
  • Shariat M; Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Shafiei A; Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Mohammadi J; Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Hassanpour G; Department of Life Science, Faculty of New Science and Technology, University of Tehran, Tehran, Iran.
  • Chavoshzadeh Z; Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, Tehran, Iran.
  • Mahdaviani SA; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Momen T; Pediatric Respiratory Disease Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Behniafard N; 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.
  • Nabavi M; Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, and Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, 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 Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Sherkat R; Department of Pediatrics, Bo-Ali Children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran.
  • Shirkani A; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Alyasin S; Allergy and Clinical Immunology Department, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran.
  • Jabbari-Azad F; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Ghaffari J; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mesdaghi M; Molecular and Cell Biology Research Center, Pediatric Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
  • Ahanchian H; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran.
  • Khoshkhui M; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Eslamian MH; Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Cheraghi T; Department of Pediatrics, Hamedan University of Medical Sciences, Hamedan, Iran.
  • Dabbaghzadeh A; Department of Pediatrics, 17 Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran.
  • Nasiri Kalmarzi R; Pediatric Infectious Diseases Research Center, Communicable Disease Institute, Mazandaran University of Medical Sciences, Sari, Iran.
  • Esmaeilzadeh H; Lung Diseases and Allergy Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.
  • Tafaroji J; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Khalili A; Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran.
  • Sadeghi-Shabestari M; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Darougar S; Immunology Research Center of Tabriz, TB and Lung Research Center of Tabriz, Children Hospital, Tabriz University of Medical science, Tabriz, Iran.
  • Moghtaderi M; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Ahmadiafshar A; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Shakerian B; Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran.
  • Heidarzadeh M; Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Ghalebaghi B; Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran.
  • Fathi SM; Department of Pediatrics, 17 Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran.
  • Darabi B; Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran.
  • Fallahpour M; Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran.
  • Mohsenzadeh A; Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Ebrahimi S; Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, 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; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Pediatr Allergy Immunol ; 32(6): 1335-1348, 2021 08.
Article en En | MEDLINE | ID: mdl-33774840
ABSTRACT

BACKGROUND:

The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations.

METHODS:

We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data.

RESULTS:

A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study. Overall, 331 patients (72.1%) were born to consanguineous parents. At the time of the study, 330 individuals (75.7%) were alive and 106 (24.3%) were deceased. Autoimmunity was reported in 92 (20.0%) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0-7.0) years. Sixteen patients (3.5%) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0%), ATM (in 13 patients, 14.0%), and BTK (in 9 patients, 10.0%) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100%), 3 of 3 AIRE (100%), and 21 of 30 LRBA (70.0%) mutated genes had the highest prevalence of autoimmunity.

CONCLUSIONS:

Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next-generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease.
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Inmunodeficiencia Variable Común Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Inmunodeficiencia Variable Común Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article