Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency

Necil Kutukculer; Daniele Moratto; Yesim Aydinok; Vassilis Lougaris; Serap Aksoylar; Alessandro Plebani; Ferah Genel; Luigi D Notarangelo

doi:10.1067/mpd.2003.41

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency

J Pediatr. 2003 Feb;142(2):194-6. doi: 10.1067/mpd.2003.41.

Authors

Necil Kutukculer¹, Daniele Moratto, Yesim Aydinok, Vassilis Lougaris, Serap Aksoylar, Alessandro Plebani, Ferah Genel, Luigi D Notarangelo

Affiliation

¹ Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.

PMID: 12584544
DOI: 10.1067/mpd.2003.41

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

CD40 Antigens / genetics*
Consanguinity
Cryptosporidiosis / etiology*
Diagnosis, Differential
Female
Flow Cytometry
Genes, Recessive / genetics
Genetic Diseases, X-Linked / complications*
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / therapy
Growth Disorders / etiology
Humans
Hypergammaglobulinemia / complications*
Hypergammaglobulinemia / diagnosis
Hypergammaglobulinemia / genetics*
Hypergammaglobulinemia / therapy
Immunoglobulin M / genetics*
Immunophenotyping
Infant
Pedigree
Respiratory Insufficiency / etiology
Tomography, X-Ray Computed
Turkey

Substances

CD40 Antigens
Immunoglobulin M