Herpes in STAT1 gain-of-function mutation

Both patients carried the heterozygous germline mutation detected by genomic DNA sequencing in the STAT1 gene, which encodes signal transducer and activator of transcription (STAT) 1 (see figure, appendix). [...]to previously reported patients with STAT1 mutations and chronic mucocutaneous disease o...

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Veröffentlicht in:The Lancet (British edition) 2012-06, Vol.379 (9835), p.2500-2500
Hauptverfasser: Tóth, Beáta, PhD, Méhes, Leonóra, MD, Taskó, Szilvia, Szalai, Zsuzsanna, MD, Tulassay, Zsolt, Prof, Cypowyj, Sophie, PhD, Casanova, Jean-Laurent, Prof, Puel, Anne, PhD, Maródi, László, Prof
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Sprache:eng
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Zusammenfassung:Both patients carried the heterozygous germline mutation detected by genomic DNA sequencing in the STAT1 gene, which encodes signal transducer and activator of transcription (STAT) 1 (see figure, appendix). [...]to previously reported patients with STAT1 mutations and chronic mucocutaneous disease only, our patients presented with recurrent shingles and cutaneous lesions due to the reactivation of varicella and HSV infection.1,2 These unusual reactivations followed the normal courses of chickenpox and uneventful primary HSV infections in childhood. The mechanism underlying reactivation disease in patients with STAT1 mutations and chronic mucocutaneous candidosis could involve the impairment of memory T cells, as reported in patients with hyper-IgE syndrome and STAT3 deficiency.5 The effect of recurrent viral infections on the prognosis of chronic mucocutaneous candidosis remains to be elucidated.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(12)60365-1