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Open Access 01-12-2023 | Candidiasis | Research

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

Authors: 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

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2023

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 < 12 months in 66.7% of patients. Respiratory complications, namely bronchiectasis and pneumatoceles, were present at diagnosis in 46.7% and 43.3% of patients, respectively. Antimicrobial prophylaxis resulted in a decrease in the incidence of pneumonia from 76.7% to 46.7%. At the time of diagnosis, skin involvement was present in 93.3% of the patients, including eczema (80.8%) and abscesses (66.7%). At the time of follow-up, under therapy, the prevalence of complications decreased: eczema and skin abscesses reduced to 63.3% and 56.7%, respectively. Antifungal prophylaxis decreased the incidence of mucocutaneous candidiasis from 70% to 56.7%. During the SARS-CoV-2 pandemic, seven patients developed COVID-19. Survival analyses showed that 27 out of 30 patients survived, while three patients died at ages of 28, 39, and 46 years as a consequence of lung bleeding, lymphoma, and sepsis, respectively. Analysis of a cumulative follow-up period of 278.7 patient-years showed that early diagnosis, adequate management at expertise centers for IEI, prophylactic antibiotics, and antifungal therapy improve outcomes and can positively influence the life expectancy of patients.

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Title: 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
Authors: 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
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Candidiasis
Candidiasis
COVID-19
Published in: Allergy, Asthma & Clinical Immunology / Issue 1/2023
Electronic ISSN: 1710-1492
DOI: https://doi.org/10.1186/s13223-023-00776-5

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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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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