PRENATAL DIAGNOSIS OF LEUKOCYTE ADHESION DEFICIENCY TYPE-1 (FIVE CASES FROM IRAN WITH TWO NEW MUTATIONS)

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

ESMAEILI BEHNAZ; MOGHADAMI MOHSEN; FAZLOLLAHI MOHAMMAD REZA; NIROOMANESH SHIRIN; ATAROD LIDA; CHAVOSHZADEH ZAHRA; MORADI ZEINAB; ALIZADEH ZAHRA; POURPAK ZAHRA

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Iranian Journal of Allergy, Asthma and Immunology Year:2014 | Volume:13 | Issue:1 Page(s): 61-65

Download Full-Text

View:

376

Download:

188

Cites:

Information Journal Paper

Title

PRENATAL DIAGNOSIS OF LEUKOCYTE ADHESION DEFICIENCY TYPE-1 (FIVE CASES FROM IRAN WITH TWO NEW MUTATIONS)

Author(s)

Keywords

CVS

LAD-1

PRENATAL DIAGNOSIS

Abstract

Leukocyte adhesion deficiency type-1 (LAD-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrinbeta 2 (ITGB2) gene. The aim of this study was to investigate molecular PRENATAL DIAGNOSIS of LAD-1. Four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of LAD-1 in their previous children were studied. The chorionic villus sampling (CVS) was obtained when mothers were in 10-12th weeks of gestation.Mutation analysis of ITGB2 gene for affected children revealed 3 misssense mutations (c.382G>A, a novel mutation, c.2146G>C, and c.715G>A) and one splice site novel mutation (c.1877+2T>C). All parents were heterozygous for these mutations.Consideration of affected gene regions for five CVS samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. Interestingly, one of the twin fetuses was affected and another was normal. Briefly, two cases of CVS samples were affected and three cases of remained CVS samples were unaffected.This is the first report of PRENATAL DIAGNOSIS of LAD-1 from Iran with two new mutations that can be used for genetic and PRENATAL DIAGNOSIS for all patients suspected to LAD1 and can be helpful to prevent the birth of affected children with LAD-1.This abstract was presented in the Second International Congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.

Cites

No record.

References

No record.

Cite

APA: Copy

ESMAEILI, BEHNAZ, MOGHADAMI, MOHSEN, FAZLOLLAHI, MOHAMMAD REZA, NIROOMANESH, SHIRIN, ATAROD, LIDA, CHAVOSHZADEH, ZAHRA, MORADI, ZEINAB, ALIZADEH, ZAHRA, & POURPAK, ZAHRA. (2014). PRENATAL DIAGNOSIS OF LEUKOCYTE ADHESION DEFICIENCY TYPE-1 (FIVE CASES FROM IRAN WITH TWO NEW MUTATIONS). IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), 13(1), 61-65. SID. https://sid.ir/paper/291379/en

Vancouver: Copy

ESMAEILI BEHNAZ, MOGHADAMI MOHSEN, FAZLOLLAHI MOHAMMAD REZA, NIROOMANESH SHIRIN, ATAROD LIDA, CHAVOSHZADEH ZAHRA, MORADI ZEINAB, ALIZADEH ZAHRA, POURPAK ZAHRA. PRENATAL DIAGNOSIS OF LEUKOCYTE ADHESION DEFICIENCY TYPE-1 (FIVE CASES FROM IRAN WITH TWO NEW MUTATIONS). IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI)[Internet]. 2014;13(1):61-65. Available from: https://sid.ir/paper/291379/en

IEEE: Copy

BEHNAZ ESMAEILI, MOHSEN MOGHADAMI, MOHAMMAD REZA FAZLOLLAHI, SHIRIN NIROOMANESH, LIDA ATAROD, ZAHRA CHAVOSHZADEH, ZEINAB MORADI, ZAHRA ALIZADEH, and ZAHRA POURPAK, “PRENATAL DIAGNOSIS OF LEUKOCYTE ADHESION DEFICIENCY TYPE-1 (FIVE CASES FROM IRAN WITH TWO NEW MUTATIONS),” IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), vol. 13, no. 1, pp. 61–65, 2014, [Online]. Available: https://sid.ir/paper/291379/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops