Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.
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.
Kutukculer
Necil
N
Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.
Moratto
Daniele
D
Aydinok
Yesim
Y
Lougaris
Vassilis
V
Aksoylar
Serap
S
Plebani
Alessandro
A
Genel
Ferah
F
Notarangelo
Luigi D
LD
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
D019013:CD40 Antigens; D007075:Immunoglobulin M