학술논문
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome
Document Type
article
Author
Maria Carrabba; Rosa Maria Dellepiane; Manuela Cortesi; Lucia Augusta Baselli; Annarosa Soresina; Emilia Cirillo; Giuliana Giardino; Francesca Conti; Laura Dotta; Andrea Finocchi; Caterina Cancrini; Cinzia Milito; Lucia Pacillo; Bianca Laura Cinicola; Fausto Cossu; Rita Consolini; Davide Montin; Isabella Quinti; Andrea Pession; Giovanna Fabio; Claudio Pignata; Maria Cristina Pietrogrande; Raffaele Badolato
Source
Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-12 (2023)
Subject
Language
English
ISSN
1710-1492
Abstract
Abstract Job’s syndrome, or autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES, STAT3-Dominant Negative), is a rare inborn error of immunity (IEI) with multi-organ involvement and long-life post-infective damage. Longitudinal registries are of primary importance in improving our knowledge of the natural history and management of these rare disorders. This study aimed to describe the natural history of 30 Italian patients with AD-HIES recorded in the Italian network for primary immunodeficiency (IPINet) registry. This study shows the incidence of manifestations present at the time of diagnosis versus those that arose during follow up at a referral center for IEI. The mean time of diagnostic delay was 13.7 years, while the age of disease onset was