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Acta Medica Iranica، جلد ۲۰۱۰، شماره ۰۸، صفحات ۲۷۳-۲۷۶
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عنوان انگلیسی Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants
چکیده انگلیسی مقاله 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.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله زهره کاوه منش | zohreh kavehmanesh
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

زهرا خلیلی متین زاده | zahra khalili matinzadeh
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

سوسن امیرسالاری | susan amirsalari
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

محمد ترکمان | mohammad torkaman
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

شهلا afsharpayman | shahla afsharpayman
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

مرتضی جوادی پور | morteza javadipour
department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/4046
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