title: [The first case of leukocyte integrin deficiency syndrome in the Czech Republic and successful prenatal diagnosis in the affected family].
abstract: The syndrome of leukocyte adhesion deficiency (LAD) is a rare congenital immunodeficiency which is usually manifested from birth by serious infections of the skin and mucosal membranes. The molecular basis of the disease is heterogeneous: quantitative or qualitative disorders of the beta 2 integrin sub-unit are involved which lead to the absence or substantially reduced expression of adhesive molecules of the CD11/CD18 complex on leukocytes. The authors describe the case of a boy who suffered from this syndrome. The diagnosis was established at the age of four years, based on the typical clinical picture and confirmed by examination of integrins on lymphocytes and granulocytes which were zero. During the mother's subsequent pregnancy prenatal diagnosis was made by puncture of the umbilical cord during the 22nd week of gestation. Affection of the foetus by this syndrome was ruled out by examination of integrin expression on foetal leukocytes, a normal finding was confirmed also after delivery. During delivery umbilical blood was collected which was frozen and later used for therapeutic transplantation to the sibling suffering from LAD. This is the first case of this syndrome in the Czech Republic and first prenatal diagnosis which led to aimed collection of umbilical blood used for treatment of this rare immunodeficiency.
authors.affiliation: Imunologický odbor KHES, Ustí nad Labem, LF UK a VFN, Praha.
authors.forename: V
authors.initials: V
authors.lastname: Král
authors.forename: J
authors.initials: J
authors.lastname: Bartůnková
authors.forename: K
authors.initials: K
authors.lastname: Svorc
authors.forename: P
authors.initials: P
authors.lastname: Calda
authors.forename: D
authors.initials: D
authors.lastname: Jílek
authors.forename: P
authors.initials: P
authors.lastname: Kobylka
authors.forename: J
authors.initials: J
authors.lastname: Starý
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
vernacular_title: První prípad syndromu deficience leukocytárních integrinů v ceské republice a úspĕsná prenatální diagnostika v postizené rodinĕ.