Author/Authors :
Fallah, Shahrzad Emergency Department - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Mesdaghi, Mehrnaz Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Mansouri, Mahboubeh Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Babaei, Delara Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Karimi, Abdollah Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Fahimzad, Seyed Alireza Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Armin, Shahnaz Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Rafiei Tabatabaei, Sedigheh Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Azma, Roxana Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Khanbabaee, Ghamartaj Department of Pediatric Pulmonology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Bashardoost, Bahram Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Amirmoeini, Mehrdad Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Sadr, Saeed Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Jalilianhasanpour, Rozita Research Center for Immunodeficiencies - Children’s Medical Center - Tehran University of Medical Sciences, Tehran , Ghanaei, Roxana Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Rezaei, Nima Research Center for Immunodeficiencies - Children’s Medical Center - Tehran University of Medical Sciences, Tehran , Chavoshzadeh, Zahra Pediatric Infectious Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran
Abstract :
Severe combined immunodeficiency syndrome (SCID) is a life-threatening condition leading to early infant death as a result of severe infection, due to impaired cellular and humoral immune systems. Various forms of SCID are classified based on the presence or absence of T cells, B cells and natural killer cells. Patients usually present with recurrent infections and failure to thrive. Definitive treatment is hematopoietic stem cell transplantation. To achieve the best outcome, it should be performed prior to the development of severe infection.
In This study, we described 10 patients (6 male and 4 female) with SCID who were admitted to Mofid Children Hospital, Tehran, Iran, from 2006 to 2013. We reviewed patients’ clinical manifestation, laboratory data, family history and outcome.
The mean age at the time of diagnosis was 131.8 days. One patient had non-consanguineous parents. Seven patients received BCG vaccine before the diagnosis of SCID, three of them showed disseminated BCG infection. One patient presented with invasive pulmonary aspergillosis. Flow cytometric analysis showed T⁻B⁺NK⁻ in three patients, T⁻B⁻NK⁺ in five patients, T⁻B⁻NK⁻ in one patient, and T⁻B⁺NK⁺ in one patient.
This study highlights the importance of early diagnosis and patient referral before the occurrence of serious infection.
