title: Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.
abstract: We report the case of an infant with severe respiratory infections, chronic diarrhea, failure to thrive, and disseminated Cryptosporidium parvum infection. Laboratory investigations disclosed a diagnosis of hyper-IgM syndrome caused by CD40 deficiency.
authors.affiliation: Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.
authors.forename: Necil
authors.initials: N
authors.lastname: Kutukculer
authors.forename: Daniele
authors.initials: D
authors.lastname: Moratto
authors.forename: Yesim
authors.initials: Y
authors.lastname: Aydinok
authors.forename: Vassilis
authors.initials: V
authors.lastname: Lougaris
authors.forename: Serap
authors.initials: S
authors.lastname: Aksoylar
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.forename: Ferah
authors.initials: F
authors.lastname: Genel
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D019013:CD40 Antigens / Q000235:genetics*; D003241:Consanguinity; D003457:Cryptosporidiosis / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D005434:Flow Cytometry; D005808:Genes, Recessive / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007075:Immunoglobulin M / Q000235:genetics*; D016130:Immunophenotyping; D007223:Infant; D010375:Pedigree; D012131:Respiratory Insufficiency / Q000209:etiology; D014057:Tomography, X-Ray Computed; D014421:Turkey
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M