title: Failure to thrive in a 14-month-old boy with lymphopenia and eosinophilia.
abstract: We describe the case of a 14-month-old boy with delayed-onset SCID due to ADA-deficiency which was masqueraded only by failure to thrive. Remarkably, the child had no serious infections and an adequate immune response. However, absolute lymphopenia, eosinophilia and absent thymus on chest x-ray were indicative for immunodeficiency.
authors.affiliation: Department of Pediatrics, University of Lübeck, Ratzeburger Allee 160, D-23538 Luebeck, Germany. haertel@paedia.ukl.mu-luebeck.de
authors.forename: C
authors.initials: C
authors.lastname: Härtel
authors.forename: T
authors.initials: T
authors.lastname: Strunk
authors.forename: P
authors.initials: P
authors.lastname: Bucsky
authors.forename: C
authors.initials: C
authors.lastname: Schultz
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D002097:C-Reactive Protein / Q000032:analysis; D016516:CD4-CD8 Ratio; D003937:Diagnosis, Differential; D004802:Eosinophilia / Q000175:diagnosis / Q000209:etiology* / Q000276:immunology; D005183:Failure to Thrive / Q000175:diagnosis / Q000209:etiology* / Q000276:immunology; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D006801:Humans; D007223:Infant; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000175:diagnosis / Q000209:etiology* / Q000276:immunology; D008297:Male; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D013922:Thrombocytosis / Q000175:diagnosis / Q000209:etiology / Q000276:immunology; D013950:Thymus Gland / Q000002:abnormalities
chemical_list: D002097:C-Reactive Protein; D000243:Adenosine Deaminase