Title: IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
Authors: Ku, Cheng-Lung ×
Picard, Capucine
Erdös, Melinda
Jeurissen, Axel
Bustamante, Jacinta
Puel, Anne
von Bernuth, Horst
Filipe-Santos, Orchidée
Chang, Huey-Hsuan
Lawrence, Tatiana
Raes, Marc
Maródi, László
Bossuyt, Xavier
Casanova, Jean-Laurent #
Issue Date: Jan-2007
Publisher: British Medical Association
Series Title: Journal of Medical Genetics vol:44 issue:1 pages:16-23
Abstract: BACKGROUND: About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained. OBJECTIVE: To report two cases of otherwise healthy, unrelated children with recurrent IPD as the only clinical infectious manifestation of an inherited disorder in nuclear factor-kappaB(NF-kappaB)-dependent immunity. RESULTS: One child carried two germline mutations in IRAK4, and had impaired cellular responses to interleukin (IL)1 receptor and toll-like receptor (TLR) stimulation. The other child carried a hemizygous mutation in NEMO, associated with a broader impairment of NF-kappaB activation, with an impaired cellular response to IL-1R, TLR and tumour necrosis factor receptor stimulation. The two patients shared a narrow clinical phenotype, associated with two related but different genotypes. CONCLUSIONS: Otherwise healthy children with recurrent IPD should be explored for underlying primary immunodeficiencies affecting the IRAK4-dependent and NEMO-dependent signalling pathways.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Clinical Bacteriology and Mycology
Experimental Laboratory Immunology
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science