Long term longitudinal follow up of AD-HIES cohort: impact of early diagnosis and enrolment to IPINet centres on natural history of Job's Syndrome
Abstract BackgroundJob’s Syndrome or Autosomal Dominant Hyper Immunoglobulin E Syndrome (AD-HIES) is a very rare inborn error of immunity disorder with multi-organ involvement and long-life post-infective damages. Longitudinal registries are of main importance to improve knowledge on natural history and management of these rare disorders. This study aims to describe the natural history of 30 Italian patients recorded in the IPINet registry with dominat negative AD-HIES. MethodsThe study shows the incidence of manifestations presented at the time of diagnosis versus the ones arose during follow up at a referral centre for inborn errors of immunity (IEI). ResultsThe mean time of diagnostic delay was 13.7 years, while age at disease onset was <12 months in the 66.7% of patients. Respiratory complications such as bronchiectasis and pneumatoceles were present at diagnosis in the 46.7% and 43.3% respectively. Antimicrobial prophylaxis resulted in decrease of pneumonia incidence from 76.7% to 46.7%. At diagnosis skin involvement was present in 93.3% of patients: eczema 80.8%, abscess 66.7%. At the follow up, under therapy the prevalence of complications decreased: eczema reduced to 63.3% and skin abscess to 56.7%. Antifungal prophylaxis decreased the mucocutaneous candidiasis occurrence from 70% to 56.7%. In the course of SARS-CoV-2 pandemic, seven patients developed COVID-19. Survival analyses showed that 27 out of 30 patients are still alive, while three patients died at age of 28, 39 and 46 as consequence of lungs bleeding, lymphoma and sepsis, respectively. ConclusionsAnalysis of a cumulative follow-up of 278.7 patient-years has shown that early diagnosis, adequate management at expertise centres for IEI, prophylactic antibiotic and antifungal therapy improve outcome and can positively influence patients’ life expectancy..
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Preprint| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
ResearchSquare.com - (2023) vom: 17. Okt. Zur Gesamtaufnahme - year:2023 |
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| Sprache: |
Englisch |
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| Beteiligte Personen: |
Carrabba, Maria [VerfasserIn] |
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| doi: |
10.21203/rs.3.rs-1805351/v1 |
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| PPN (Katalog-ID): |
XRA036516309 |
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| 520 | |a Abstract BackgroundJob’s Syndrome or Autosomal Dominant Hyper Immunoglobulin E Syndrome (AD-HIES) is a very rare inborn error of immunity disorder with multi-organ involvement and long-life post-infective damages. Longitudinal registries are of main importance to improve knowledge on natural history and management of these rare disorders. This study aims to describe the natural history of 30 Italian patients recorded in the IPINet registry with dominat negative AD-HIES. MethodsThe study shows the incidence of manifestations presented at the time of diagnosis versus the ones arose during follow up at a referral centre for inborn errors of immunity (IEI). ResultsThe mean time of diagnostic delay was 13.7 years, while age at disease onset was <12 months in the 66.7% of patients. Respiratory complications such as bronchiectasis and pneumatoceles were present at diagnosis in the 46.7% and 43.3% respectively. Antimicrobial prophylaxis resulted in decrease of pneumonia incidence from 76.7% to 46.7%. At diagnosis skin involvement was present in 93.3% of patients: eczema 80.8%, abscess 66.7%. At the follow up, under therapy the prevalence of complications decreased: eczema reduced to 63.3% and skin abscess to 56.7%. Antifungal prophylaxis decreased the mucocutaneous candidiasis occurrence from 70% to 56.7%. In the course of SARS-CoV-2 pandemic, seven patients developed COVID-19. Survival analyses showed that 27 out of 30 patients are still alive, while three patients died at age of 28, 39 and 46 as consequence of lungs bleeding, lymphoma and sepsis, respectively. ConclusionsAnalysis of a cumulative follow-up of 278.7 patient-years has shown that early diagnosis, adequate management at expertise centres for IEI, prophylactic antibiotic and antifungal therapy improve outcome and can positively influence patients’ life expectancy. | ||
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