Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 13 1 2014 02 15 61 65 EN Behnaz Esmaeili Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohsen Ghadami Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences, Tehran, Iran Mohammad Reza Fazlollahi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Shirin Niroomanesh Department of Prenatalogy, Zanan Hospital, Tehran University of Medical Sciences, Tehran, Iran Lida Atarod Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran Zahra Chavoshzadeh Pediatric Infection Research Center, Mofid Hospital, Shaheed Beheshti University of Medical Sciences, Tehran, Iran Zeinab Moradi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Zahra Alizadeh Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Zahra Pourpak Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2015 10 16 Leukocyte adhesion deficiency type-1(LAD-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/475 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/475/362