Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

Filomeen Haerynck; Steve M Holland; Sergio D Rosenzweig; Jean-Laurent Casanova; Petra Schelstraete; Frans De Baets

doi:10.1016/j.jpeds.2008.05.050

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

J Pediatr. 2008 Nov;153(5):721-2. doi: 10.1016/j.jpeds.2008.05.050.

Authors

Filomeen Haerynck¹, Steve M Holland, Sergio D Rosenzweig, Jean-Laurent Casanova, Petra Schelstraete, Frans De Baets

Affiliation

¹ Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Ghent, Belgium. [email protected]

PMID: 18940359
DOI: 10.1016/j.jpeds.2008.05.050

Abstract

A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal adenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exon2) of the Interleukin-12 Receptor-beta1 (IL-12Rbeta1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement.

Publication types

Case Reports

MeSH terms

Child
Edema / pathology
Exons
Fatal Outcome
Female
Genetic Predisposition to Disease
Humans
Lung / microbiology
Lung / pathology
Models, Biological
Mutation*
Mycobacterium Infections / diagnosis*
Mycobacterium Infections / genetics*
Mycobacterium Infections / mortality
Mycobacterium avium / metabolism*
Myocarditis / genetics
Myocarditis / microbiology
Myocarditis / mortality*
Receptors, Interleukin-12 / genetics*

Substances

Receptors, Interleukin-12