Show simple item record

dc.contributor.authorFazlollahi, MR
dc.contributor.authorPourpak, Z
dc.contributor.authorHamidieh, AA
dc.contributor.authorMovahedi, M
dc.contributor.authorHoushmand, M
dc.contributor.authorBadalzadeh, M
dc.contributor.authorNourizadeh, M
dc.contributor.authorMahloujirad, M
dc.contributor.authorArshi, S
dc.contributor.authorNabavi, M
dc.contributor.authorGharagozlou, M
dc.contributor.authorKhayatzadeh, A
dc.contributor.authorDabbaghzade, A
dc.contributor.authorAtarod, L
dc.contributor.authorZandieh, F
dc.contributor.authorSadeghi Shabestary, M
dc.contributor.authorMesdaghi, M
dc.contributor.authorMohammadzadeh, I
dc.contributor.authorMahdaviani, SA
dc.contributor.authorEslamian, MH
dc.contributor.authorPesaran, F
dc.contributor.authorBahraminia, E
dc.contributor.authorAbolnezhadian, F
dc.contributor.authorArij, Z
dc.contributor.authorMoin, M
dc.date.accessioned2018-08-26T08:39:10Z
dc.date.available2018-08-26T08:39:10Z
dc.date.issued2017
dc.identifier.urihttp://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/53001
dc.description.abstractIntroduction: 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.isoEnglish
dc.relation.ispartofJournal of Investigational Allergology and Clinical Immunology
dc.subjectimmunoglobulin A
dc.subjectimmunoglobulin E
dc.subjectimmunoglobulin G
dc.subjectimmunoglobulin M
dc.subjectphytohemagglutinin
dc.subjectArticle
dc.subjectBCG vaccination
dc.subjectCD3+ T lymphocyte
dc.subjectCD4 lymphocyte count
dc.subjectCD4+ T lymphocyte
dc.subjectCD8+ T lymphocyte
dc.subjectchild
dc.subjectchronic diarrhea
dc.subjectcohort analysis
dc.subjectcomplement hemolysis test
dc.subjectfailure to thrive
dc.subjectfemale
dc.subjectflow cytometry
dc.subjectgene mutation
dc.subjectgenetic analysis
dc.subjectgraft versus host reaction
dc.subjecthematopoietic stem cell transplantation
dc.subjecthuman
dc.subjectimmunophenotyping
dc.subjectinfant
dc.subjectlymphocyte proliferation
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmouth ulcer
dc.subjectnewborn
dc.subjectpneumonia
dc.subjectprospective study
dc.subjectquestionnaire
dc.subjectsepsis
dc.subjectsevere combined immunodeficiency
dc.subjectthrush
dc.titleClinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: A decade’s experience
dc.typeArticle
dc.citation.volume27
dc.citation.issue5
dc.citation.spage299
dc.citation.epage304
dc.citation.indexScopus
dc.identifier.DOIhttps://doi.org/10.18176/jiaci.0147


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record