title: Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.
abstract: Leucocyte adhesion deficiency (LAD) is a group of rare autosomal recessive (<1:1 000 000 births) inherited disorders characterised by immune deficiency and peripheral neutrophilia. Three types of LAD syndrome have been distinguished. LAD type 1 (LAD-I) is the most common. It results from a mutation in the integrin β 2 (ITGB2) gene that codes the ITGB subunit (CD18 antigen). Since 1970, it has been reported in more than 300 children worldwide. It is characterised by delayed separation of the umbilical cord, recurrent bacterial and fungal infections, defective wound healing, blood neutrophilia and a high mortality rate at an early age. We report the second fatal case of an infant with LAD-I diagnosed in Chile, with developmental delay associated with a congenital cytomegalovirus infection. CD18/CD11 expression was normal. Genetic analysis of CD18 revealed a homozygous mutation in ITGB2, viz.c.1835G>T; p.C612F, and led us to suspect a biological parent other than the legal father and, therefore, an unwanted social situation.
authors: Department of Paediatrics, San Sebastian University, Puerto Montt Hospital Chile, Puerto Montt, Chile.
authors: Alexis
authors: A
authors: Strickler
authors: Department of Paediatrics, San Sebastian University, Puerto Montt Hospital Chile, Puerto Montt, Chile.
authors: Silvanna
authors: S
authors: Gallo
authors: Department of Paediatric Immunology, Hospital Luis Calvo MacKenna, Universidad de Chile, Santiago, Chile.
authors: Alejandra
authors: A
authors: King
authors: Immunology Service, DLM, CC, NIH, Bethesda, Maryland, USA.
authors: Sergio D
authors: SD
authors: Rosenzweig
mesh_terms: D018821:CD18 Antigens / Q000235:genetics*; D002677:Chile; D003586:Cytomegalovirus Infections / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D018821:CD18 Antigens