title: Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.
abstract: A family with an unusual combination of B-cell immunodeficiency, distal limb abnormalities, genitourinary malformations, and mild dysmorphic features has recently been described. Here, we report a second family with similar features, which also shows autosomal dominant inheritance. In affected individuals from both families, sequence analysis of candidate gene HOXA13 did not identify a mutation, and there was no evidence of a microdeletion involving either HOXA13 or the HOXA cluster as a whole. We further delineate the phenotype of this condition in females and add weight to the observation that this is a true syndromic association.
authors.affiliation: Clinical Genetics Unit, Institute of Child Health, London, UK. mtischkowitz@doctors.org.uk
authors.forename: M
authors.initials: M
authors.lastname: Tischkowitz
authors.forename: F
authors.initials: F
authors.lastname: Goodman
authors.forename: M
authors.initials: M
authors.lastname: Koliou
authors.forename: D
authors.initials: D
authors.lastname: Webster
authors.forename: P
authors.initials: P
authors.lastname: Edery
authors.forename: A
authors.initials: A
authors.lastname: Jones
authors.forename: L C
authors.initials: LC
authors.lastname: Wilson
mesh_terms: D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C099959:homeobox protein HOXA13; C088144:HoxA protein