Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

Leukocyte adhesion deficiency: report of two family related newborn infants

(2010) Leukocyte adhesion deficiency: report of two family related newborn infants. Acta Med Iran. pp. 273-6. ISSN 0044-6025

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Official URL: http://www.ncbi.nlm.nih.gov/pubmed/21279944

Abstract

Leukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6 in Patient 1 and 2.4 in Patient 2). In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.

Item Type: Article
Keywords: *Cell Adhesion Genetic Diseases, Inborn/blood/*diagnosis Humans Infant, Newborn *Infant, Newborn, Diseases Leukocytes/*pathology Male
Divisions:
Page Range: pp. 273-6
Journal or Publication Title: Acta Med Iran
Journal Index: Pubmed
Volume: 48
Number: 4
ISSN: 0044-6025
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/2126

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