dc.contributor.author | Fazlollahi, MR | |
dc.contributor.author | Pourpak, Z | |
dc.contributor.author | Hamidieh, AA | |
dc.contributor.author | Movahedi, M | |
dc.contributor.author | Houshmand, M | |
dc.contributor.author | Badalzadeh, M | |
dc.contributor.author | Nourizadeh, M | |
dc.contributor.author | Mahloujirad, M | |
dc.contributor.author | Arshi, S | |
dc.contributor.author | Nabavi, M | |
dc.contributor.author | Gharagozlou, M | |
dc.contributor.author | Khayatzadeh, A | |
dc.contributor.author | Dabbaghzade, A | |
dc.contributor.author | Atarod, L | |
dc.contributor.author | Zandieh, F | |
dc.contributor.author | Sadeghi Shabestary, M | |
dc.contributor.author | Mesdaghi, M | |
dc.contributor.author | Mohammadzadeh, I | |
dc.contributor.author | Mahdaviani, SA | |
dc.contributor.author | Eslamian, MH | |
dc.contributor.author | Pesaran, F | |
dc.contributor.author | Bahraminia, E | |
dc.contributor.author | Abolnezhadian, F | |
dc.contributor.author | Arij, Z | |
dc.contributor.author | Moin, M | |
dc.date.accessioned | 2018-08-26T08:39:10Z | |
dc.date.available | 2018-08-26T08:39:10Z | |
dc.date.issued | 2017 | |
dc.identifier.uri | http://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/53001 | |
dc.description.abstract | 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. © 2017 Esmon Publicidad. | |
dc.language.iso | English | |
dc.relation.ispartof | Journal of Investigational Allergology and Clinical Immunology | |
dc.subject | immunoglobulin A | |
dc.subject | immunoglobulin E | |
dc.subject | immunoglobulin G | |
dc.subject | immunoglobulin M | |
dc.subject | phytohemagglutinin | |
dc.subject | Article | |
dc.subject | BCG vaccination | |
dc.subject | CD3+ T lymphocyte | |
dc.subject | CD4 lymphocyte count | |
dc.subject | CD4+ T lymphocyte | |
dc.subject | CD8+ T lymphocyte | |
dc.subject | child | |
dc.subject | chronic diarrhea | |
dc.subject | cohort analysis | |
dc.subject | complement hemolysis test | |
dc.subject | failure to thrive | |
dc.subject | female | |
dc.subject | flow cytometry | |
dc.subject | gene mutation | |
dc.subject | genetic analysis | |
dc.subject | graft versus host reaction | |
dc.subject | hematopoietic stem cell transplantation | |
dc.subject | human | |
dc.subject | immunophenotyping | |
dc.subject | infant | |
dc.subject | lymphocyte proliferation | |
dc.subject | major clinical study | |
dc.subject | male | |
dc.subject | mouth ulcer | |
dc.subject | newborn | |
dc.subject | pneumonia | |
dc.subject | prospective study | |
dc.subject | questionnaire | |
dc.subject | sepsis | |
dc.subject | severe combined immunodeficiency | |
dc.subject | thrush | |
dc.title | Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: A decade’s experience | |
dc.type | Article | |
dc.citation.volume | 27 | |
dc.citation.issue | 5 | |
dc.citation.spage | 299 | |
dc.citation.epage | 304 | |
dc.citation.index | Scopus | |
dc.identifier.DOI | https://doi.org/10.18176/jiaci.0147 | |