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Clinical, Laboratory and Molecular Findings of 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 AM5, 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 Institiute(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, Tehran, Iran

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

Introduction: Severe combined immunodeficiency (SCID) is known as a pediatric emergency disease with life threatening conditions. This is an exclusive report of clinical evaluation, immunological assessment, molecular analysis and outcomes of SCID patients in a tertiary referral center in Iran.
Methods: During January 2006 and December 2015, in a prospective cohort study, initial screening and advanced immunological tests were carried out on patients suspected of having SCID. Genetic analysis was also performed to confirm the disease.
Results: Sixty-three patients were diagnosed with SCID, forty-three (68.3%) being male. The median age of disease onset, diagnosis and delay diagnostic time were 40, 110 and 60 days respectively. Forty-nine patients (77.8%) had a history of BCG vaccination and one-third of them showed BCG associated complications. The most common clinical manifestations of all patients were pneumonia, recurrent oral candidiasis, chronic diarrhea and failure to thrive. Of the thirteen patients who underwent hematopoietic stem cell transplantation (HSCT), 8 survived and unfortunately the others died before they could receive an HSCT. Most patients (34.9%) were classified as T-B-NK+ SCID and the majority of the patients had a mutation in RAG2 or RAG1 genes.
Conclusion: Autosomal recessive SCID is the most inherited type in Iranian patients. It should be considered high priority to provide high quality training to physicians and patients’ families to reduce the delay time in diagnosis. It is also important to raise the awareness of live vaccination as well as to expand the stem cell donor registries to speed up the transplantation process.

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