title: Severe combined immunodeficiency: a cohort of 40 patients.
abstract: Severe Combined Immunodeficiency (SCID) consists of a heterogeneous group of genetic disorders characterized by an arrest in T lymphocyte development which is variably associated with an abnormal differentiation of B and NK cells. In order to depict the clinical state of Iranian patients with SCID, records of forty patients were reviewed. Patients were classified based on the flow cytometry data in two groups of B- and B+. In thirty two families (80%) parents were consanguine and in 17 families (50%) there were affected members other than proband. We showed that autosomal forms of SCID might be more frequent due to higher rate of consanguineous marriages. Alongside several infective complications, complicated Bacillus Calmette-Guérin (BCG) vaccination was documented in 18 cases (45%) following the routine vaccination at birth. BCG immunization is still a part of standard vaccination for newborns in developing countries; whereas in communities with a better health condition it could be held for a few months and performed for kids whose immune system sounds intact. We discuss where consanguine mating is common, a test of screening should be run timely. A complete blood count of cord blood could reveal lymphocytopenia at birth; this helps early diagnosis. Genetic consultation would help the families with affected members preventing new SCID offspring.
authors: Immunology, Asthma and Allergy Research Institute, Division of Allergy and Clinical Immunology, Children's Medical Centre, Medical Sciences/University of Tehran, Tehran, Iran.
authors: Mehdi
authors: M
authors: Yeganeh
authors: Marzieh
authors: M
authors: Heidarzade
authors: Zahra
authors: Z
authors: Pourpak
authors: Nima
authors: N
authors: Parvaneh
authors: Nima
authors: N
authors: Rezaei
authors: Mohammad
authors: M
authors: Gharagozlou
authors: Masoud
authors: M
authors: Movahedi
authors: Mahnaz Sadeghi
authors: MS
authors: Shabestari
authors: Setareh
authors: S
authors: Mamishi
authors: Asghar
authors: A
authors: Aghamohammadi
authors: Mostafa
authors: M
authors: Moin
mesh_terms: D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007492:Iran / Q000453:epidemiology; D008231:Lymphopenia / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D015997:Neonatal Screening; D010353:Patient Education as Topic; D016511:Severe Combined Immunodeficiency / Q000151:congenital / Q000453:epidemiology* / Q000503:physiopathology / Q000517:prevention & control; D011795:Surveys and Questionnaires; D014611:Vaccination / Q000009:adverse effects