PID in disguise: molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome
G Frans, L Moens, R Schrijvers, G Wuyts… - Journal of clinical …, 2015 - Springer
G Frans, L Moens, R Schrijvers, G Wuyts, B Bouckaert, H Schaballie, L Dupont, X Bossuyt…
Journal of clinical immunology, 2015•SpringerAutosomal recessive IL-1R-associated kinase 4 (IRAK-4) deficiency is a rare cause of
recurrent pyogenic infections with limited inflammatory responses. We describe an adult
female patient with severe lung disease who was phenotypically diagnosed as suffering
from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin
infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels.
In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and …
recurrent pyogenic infections with limited inflammatory responses. We describe an adult
female patient with severe lung disease who was phenotypically diagnosed as suffering
from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin
infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels.
In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and …
Abstract
Autosomal recessive IL-1R-associated kinase 4 (IRAK-4) deficiency is a rare cause of recurrent pyogenic infections with limited inflammatory responses. We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels. In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and circulating follicular helper T cell subsets. A panel-based sequencing approach led to the identification of a homozygous IRAK4 stop mutation (c.877C > T, p.Gln293*).
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