Severe combined immunodeficiency: a cohort of 40 patients - PubMed (original) (raw)
Severe combined immunodeficiency: a cohort of 40 patients
Mehdi Yeganeh et al. Pediatr Allergy Immunol. 2008 Jun.
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.
Similar articles
- Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency.
Sadeghi-Shabestari M, Rezaei N. Sadeghi-Shabestari M, et al. Int J Infect Dis. 2009 Nov;13(6):e420-3. doi: 10.1016/j.ijid.2009.02.008. Epub 2009 Apr 28. Int J Infect Dis. 2009. PMID: 19403320 - Development of population-based newborn screening for severe combined immunodeficiency.
Chan K, Puck JM. Chan K, et al. J Allergy Clin Immunol. 2005 Feb;115(2):391-8. doi: 10.1016/j.jaci.2004.10.012. J Allergy Clin Immunol. 2005. PMID: 15696101 - Why newborn screening for severe combined immunodeficiency is essential: a case report.
Adeli MM, Buckley RH. Adeli MM, et al. Pediatrics. 2010 Aug;126(2):e465-9. doi: 10.1542/peds.2009-3659. Epub 2010 Jul 5. Pediatrics. 2010. PMID: 20603253 - Neonatal screening for severe combined immune deficiency.
Puck JM. Puck JM. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):522-7. doi: 10.1097/ACI.0b013e3282f14a2a. Curr Opin Allergy Clin Immunol. 2007. PMID: 17989529 Review. - Newborn screening for severe combined immune deficiency (technical and political aspects).
Kobrynski L. Kobrynski L. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):539-46. doi: 10.1097/ACI.0000000000000221. Curr Opin Allergy Clin Immunol. 2015. PMID: 26485096 Review.
Cited by
- Bacillus Calmette-Guérin (BCG)-associated hemophagocytic lymphohistiocytosis in the setting of IFN-γR1 deficiency: A diagnostic dilemma.
Razaghian A, Parvaneh L, Delkhah M, Abbasi A, Sadeghirad P, Shahrooei M, Parvaneh N. Razaghian A, et al. EJHaem. 2020 Apr 28;1(1):334-337. doi: 10.1002/jha2.5. eCollection 2020 Jul. EJHaem. 2020. PMID: 35847695 Free PMC article. - SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA, Sousa JL, Geier C, Leiss-Piller A, Kanegae MPP, França TT, Boisson B, Lima AM, Costa-Carvalho BT, Aranda CS, de Moraes-Pinto MI, Segundo GRS, Ferreira JFS, Tavares FS, Guimarães FATM, Toledo EC, da Matta Ain AC, Moreira IF, Soldatelli G, Grumach AS, de Barros Dorna M, Weber CW, Di Gesu RSW, Dantas VM, Fernandes FR, Torgerson TR, Ochs HD, Bustamante J, Walter JE, Condino-Neto A. Barreiros LA, et al. J Clin Immunol. 2022 Aug;42(6):1171-1192. doi: 10.1007/s10875-022-01275-9. Epub 2022 May 3. J Clin Immunol. 2022. PMID: 35503492 - X-linked SCID with a rare mutation.
Mahdavi FS, Keramatipour M, Ansari S, Sharafian S, Karamzade A, Tavakol M. Mahdavi FS, et al. Allergy Asthma Clin Immunol. 2021 Oct 11;17(1):107. doi: 10.1186/s13223-021-00605-7. Allergy Asthma Clin Immunol. 2021. PMID: 34635152 Free PMC article. - Clinical Features and HSCT Outcome for SCID in Turkey.
Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, Aksoylar S, Uygun V, Kupesiz A, Yildiran A, Gursel O, Ates C, Elhan A, Kansoy S, Yesilipek A, Tezcan I; Turkish Pediatric Bone Marrow Transplantation Sub Group (TPBMT-SG). Ikinciogullari A, et al. J Clin Immunol. 2019 Apr;39(3):316-323. doi: 10.1007/s10875-019-00610-x. Epub 2019 Mar 28. J Clin Immunol. 2019. PMID: 30924026 - Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Sarrafzadeh SA, Nourizadeh M, Mahloojirad M, Fazlollahi MR, Shokouhi Shoormasti R, Badalzadeh M, Deswarte C, Casanova JL, Pourpak Z, Bustamante J, Moin M. Sarrafzadeh SA, et al. J Clin Immunol. 2019 Apr;39(3):287-297. doi: 10.1007/s10875-019-0593-4. Epub 2019 Feb 4. J Clin Immunol. 2019. PMID: 30715640
MeSH terms
LinkOut - more resources
Full Text Sources
Medical