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 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...

書誌詳細
出版年:	Allergy, Asthma & Clinical Immunology
主要な著者:	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
フォーマット:	論文
言語:	英語
出版事項:	BMC 2023-04-01
主題:	AD-HIES Job’s syndrome Immunodeficiency Inborn errors of immunity STAT3 Pneumatocele
オンライン･アクセス:	https://doi.org/10.1186/s13223-023-00776-5

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