Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America
نویسندگان
چکیده
منابع مشابه
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America.
CONTEXT Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several e...
متن کاملPeriodontal Involvement in Leukocyte Adhesion Deficiency: Review of the Literature and a Case Report
Objective: Leukocyte adhesion deficiency(LAD) is a scarce, autosomal recessive inherited disorder . LAD-I which is the most common type occurs due to mutations on the CD18 gene. This mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial mi...
متن کاملperiodontal involvement in leukocyte adhesion deficiency: review of the literature and a case report
objective: leukocyte adhesion deficiency(lad) is a scarce, autosomal recessive inherited disorder . lad-i which is the most common type occurs due to mutations on the cd18 gene. this mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial migratio...
متن کاملLeukocyte adhesion deficiency syndrome: a controversy solved.
Sadly, mistakes of nature are often our greatest learning tools. Such is the case with the recent description by three independent groups of the molecular etiology of leukocyte adhesion deficiency (LAD) syndrome III.1–3 The discovery that mutations in kindlin-3 are responsible for this rare genetic disorder teaches us a great deal about how leukocytes regulate adhesion and trafficking through t...
متن کاملleukocyte adhesion deficiency: report of two family related newborn infants
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 a...
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ژورنال
عنوان ژورنال: Sao Paulo Medical Journal
سال: 2012
ISSN: 1516-3180
DOI: 10.1590/s1516-31802012000400011