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Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience

Fazlollahi MR1, Pourpak Z1, Hamidieh AA2, Movahedi M3, Houshmand M1,4, Badalzadeh M1, Nourizadeh M1, Mahloujirad M1, Arshi S5, Nabavi M5, Gharagozlou M3, Khayatzadeh A3, Dabbaghzade A6, Atarod L7, Zandieh F8, Sadeghi Shabestary M9, Mesdaghi M10, Mohammadzadeh I11, Mahdaviani SA12, Eslamian MH13, Pesaran F1, Bahraminia E3, Abolnezhadian F14, Arij Z1, Moin M1

1Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran
2Hematology-Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
3Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
5Department of Allergy and Clinical Immunology, Hazrat Rasoul Hospital, Iran University of Medical Sciences, Tehran, Iran
6Department of Allergy and Clinical Immunology, Mazandaran University of Medical Sciences, Sari, Iran
7Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
8Department of Allergy and Clinical Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
9Department of Allergy and Clinical Immunology, Tabriz Children’s Hospital, Tabriz University of Medical Sciences, Tabriz, Iran
10Department of Allergy and Clinical Immunology, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
11Department of Immunology and Allergy, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran
12Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
13Allergy and Clinical Immunology Group, Faculty of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran
14Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran

J Investig Allergol Clin Immunol 2017; Vol 27(5) : 299-304
doi: 10.18176/jiaci.0147

Introduction: 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.
Conclusion: 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.

Key words: Severe combined immunodeficiency, Newborn screening, BCG complications, Stem cell transplantation