title: Unusual and severe disease course in a child with ataxia-telangiectasia.
abstract: Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy.
authors.affiliation: University Hospital Gasthuisberg Leuven, Pediatric Department, Herestraat 49, 3000 Leuven, Belgium. Isabelle.Meyts@med.kuleuven.ac.be
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.forename: Corry
authors.initials: C
authors.lastname: Weemaes
authors.forename: Chris
authors.initials: C
authors.lastname: De Wolf-Peeters
authors.forename: Marijke
authors.initials: M
authors.lastname: Proesmans
authors.forename: Marleen
authors.initials: M
authors.lastname: Renard
authors.forename: An
authors.initials: A
authors.lastname: Uyttebroeck
authors.forename: Kris
authors.initials: K
authors.lastname: De Boeck
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis; D000744:Anemia, Hemolytic, Autoimmune / Q000097:blood / Q000175:diagnosis; D001260:Ataxia Telangiectasia / Q000097:blood / Q000175:diagnosis*; D015415:Biomarkers / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D006529:Hepatomegaly / Q000097:blood / Q000175:diagnosis; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007072:Immunoglobulin D / Q000097:blood; D007073:Immunoglobulin E / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D008206:Lymphatic Diseases / Q000097:blood / Q000175:diagnosis; D009503:Neutropenia / Q000097:blood / Q000175:diagnosis; D012720:Severity of Illness Index; D013163:Splenomegaly / Q000097:blood / Q000175:diagnosis; D018344:T-Lymphocytopenia, Idiopathic CD4-Positive / Q000097:blood / Q000175:diagnosis
chemical_list: D015415:Biomarkers; D007070:Immunoglobulin A; D007072:Immunoglobulin D; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007073:Immunoglobulin E