title: Different clinical and immunological presentation of ataxia-telangiectasia within the same family.
abstract: Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The clinical expression and the immunological abnormalities are variable and apparently not associated with the type of ATM mutations. We report on two siblings affected by A-T with different clinical and immunological presentations; in particular in one the immunological phenotype was reminiscent of hyper IgM syndrome.
authors.affiliation: 1Department of Pediatrics and Institute of Molecular Medicine A. Nocivelli, University of Brescia, Brescia, Italy. soresina@med.unibs.it
authors.forename: A
authors.initials: A
authors.lastname: Soresina
authors.forename: A
authors.initials: A
authors.lastname: Meini
authors.forename: V
authors.initials: V
authors.lastname: Lougaris
authors.forename: G
authors.initials: G
authors.lastname: Cattaneo
authors.forename: S
authors.initials: S
authors.lastname: Pellegrino
authors.forename: M
authors.initials: M
authors.lastname: Piane
authors.forename: F
authors.initials: F
authors.lastname: Darra
authors.forename: A
authors.initials: A
authors.lastname: Plebani
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D064007:Ataxia Telangiectasia Mutated Proteins; D015153:Blotting, Western; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000175:diagnosis / Q000235:genetics; D007075:Immunoglobulin M / Q000097:blood; D016130:Immunophenotyping; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism*; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D007075:Immunoglobulin M; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases