title: Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.
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.
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M R
authors.initials: MR
authors.lastname: Fazlollahi
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Pourpak
authors.affiliation: Hematology-Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A A
authors.initials: AA
authors.lastname: Hamidieh
authors.affiliation: Department of Allergy and Clinical Immunology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Movahedi
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.|Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Houshmand
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Badalzadeh
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Nourizadeh
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Mahloujirad
authors.affiliation: Department of Allergy and Clinical Immunology, Hazrat Rasoul Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Arshi
authors.affiliation: Department of Allergy and Clinical Immunology, Hazrat Rasoul Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Nabavi
authors.affiliation: Department of Allergy and Clinical Immunology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Gharagozlou
authors.affiliation: Department of Allergy and Clinical Immunology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Khayatzadeh
authors.affiliation: Department of Allergy and Clinical Immunology, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Dabbaghzade
authors.affiliation: Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: L
authors.initials: L
authors.lastname: Atarod
authors.affiliation: Department of Allergy and Clinical Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Zandieh
authors.affiliation: Department of Allergy and Clinical Immunology, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Sadeghi Shabestary
authors.affiliation: Department of Allergy and Clinical Immunology, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Mesdaghi
authors.affiliation: Department of Immunology and Allergy, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran.
authors.forename: I
authors.initials: I
authors.lastname: Mohammadzadeh
authors.affiliation: Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: S A
authors.initials: SA
authors.lastname: Mahdaviani
authors.affiliation: Allergy and Clinical Immunology Group, Faculty of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran.
authors.forename: M H
authors.initials: MH
authors.lastname: Eslamian
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Pesaran
authors.affiliation: Department of Allergy and Clinical Immunology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: E
authors.initials: E
authors.lastname: Bahraminia
authors.affiliation: Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Abolnezhadian
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Arij
authors.affiliation: Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Moin
mesh_terms: D015415:Biomarkers; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D063189:Symptom Assessment
chemical_list: D015415:Biomarkers
keywords: BCG complications; Newborn screening; Severe combined immunodeficiency; Stem cell transplantation