M R Fazlollahi1, Z Pourpak1, A A Hamidieh2, M Movahedi3, M Houshmand1,4, M Badalzadeh1, M Nourizadeh1, M Mahloujirad1, S Arshi5, M Nabavi5, M Gharagozlou3, A Khayatzadeh3, A Dabbaghzade6, L Atarod7, F Zandieh8, M Sadeghi Shabestary9, M Mesdaghi10, I Mohammadzadeh11, S A Mahdaviani12, M H Eslamian13, F Pesaran1, E Bahraminia3, F Abolnezhadian14, Z Arij1, M Moin1. 1. Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran. 2. Hematology-Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 3. Department of Allergy and Clinical Immunology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 4. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran. 5. Department of Allergy and Clinical Immunology, Hazrat Rasoul Hospital, Iran University of Medical Sciences, Tehran, Iran. 6. Department of Allergy and Clinical Immunology, Mazandaran University of Medical Sciences, Sari, Iran. 7. Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran. 8. Department of Allergy and Clinical Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran. 9. Department of Allergy and Clinical Immunology, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. 10. Department of Allergy and Clinical Immunology, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 11. Department of Immunology and Allergy, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran. 12. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. 13. Allergy and Clinical Immunology Group, Faculty of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran. 14. Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran.
Abstract
BACKGROUND: Severe combined immunodeficiency (SCID) is a life-threatening pediatric disease. We report on the clinical evaluation, immunological assessment, molecular analysis, and outcomes of SCID patients in a tertiary referral center in Iran. METHODS: From January 2006 to December 2015, we performed a prospective cohort study in which initial screening and advanced immunological tests were carried out on patients suspected of having SCID. Genetic analysis was also performed to confirm the diagnosis. RESULTS: A total of 63 patients were diagnosed with SCID (43 male [68.3%]). The median age at onset and diagnosis and diagnostic delay were 40 and 110 and 60 days respectively. A total of 49 patients (77.8%) had a history of BCG vaccination, and of these, one-third experienced BCG-associated complications. The most common clinical manifestations were pneumonia, recurrent oral candidiasis, chronic diarrhea, and failure to thrive. Of the thirteen patients who underwent hematopoietic stem cell transplantation, 8 survived and 5 died before they could receive the transplant. Most patients (34.9%) were classified as having T-B-NK+ SCID and had a mutation in the RAG2 or RAG1 gene. CONCLUSIONS: Autosomal recessive SCID is the most common type in Iranian patients. Providing high-quality training to physicians and patients' families to reduce the diagnostic delay should be prioritized. It is also important to raise awareness of live vaccination and to expand stem cell donor registries to speed up the transplantation process.
BACKGROUND:Severe combined immunodeficiency (SCID) is a life-threatening pediatric disease. We report on the clinical evaluation, immunological assessment, molecular analysis, and outcomes of SCIDpatients in a tertiary referral center in Iran. METHODS: From January 2006 to December 2015, we performed a prospective cohort study in which initial screening and advanced immunological tests were carried out on patients suspected of having SCID. Genetic analysis was also performed to confirm the diagnosis. RESULTS: A total of 63 patients were diagnosed with SCID (43 male [68.3%]). The median age at onset and diagnosis and diagnostic delay were 40 and 110 and 60 days respectively. A total of 49 patients (77.8%) had a history of BCG vaccination, and of these, one-third experienced BCG-associated complications. The most common clinical manifestations were pneumonia, recurrent oral candidiasis, chronic diarrhea, and failure to thrive. Of the thirteen patients who underwent hematopoietic stem cell transplantation, 8 survived and 5 died before they could receive the transplant. Most patients (34.9%) were classified as having T-B-NK+ SCID and had a mutation in the RAG2 or RAG1 gene. CONCLUSIONS: Autosomal recessive SCID is the most common type in Iranian patients. Providing high-quality training to physicians and patients' families to reduce the diagnostic delay should be prioritized. It is also important to raise awareness of live vaccination and to expand stem cell donor registries to speed up the transplantation process.
Authors: Eva Verjans; Stephanie Kanzler; Kim Ohl; Annette D Rieg; Nadine Ruske; Angela Schippers; Norbert Wagner; Klaus Tenbrock; Stefan Uhlig; Christian Martin Journal: BMC Pulm Med Date: 2018-11-22 Impact factor: 3.317
Authors: Nashat Al Sukaiti; Khwater Ahmed; Jalila Alshekaili; Mahmood Al Kindi; Matthew C Cook; Tariq Al Farsi Journal: Front Immunol Date: 2021-01-15 Impact factor: 7.561