Manon Fleury, Céline Delestrain, Léa Roditis, Caroline Perisson, Marie-Catherine Renoux, Caroline Thumerelle, Ralph Epaud, Camille Fletcher, Nouha Jedidi, Aurore Coulomb L'Hermine, Harriet Corvol, Hubert Ducou le Pointe, Pascale Fanen, Chiara Sileo, Camille Louvrier, Alix de Becdelievre, Marie Legendre, Nadia Nathan
{"title":"Surfactant protein B deficiency: the RespiRare cohort","authors":"Manon Fleury, Céline Delestrain, Léa Roditis, Caroline Perisson, Marie-Catherine Renoux, Caroline Thumerelle, Ralph Epaud, Camille Fletcher, Nouha Jedidi, Aurore Coulomb L'Hermine, Harriet Corvol, Hubert Ducou le Pointe, Pascale Fanen, Chiara Sileo, Camille Louvrier, Alix de Becdelievre, Marie Legendre, Nadia Nathan","doi":"10.1136/thorax-2024-221947","DOIUrl":null,"url":null,"abstract":"Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information. This study that reports a series of 11 SP-B-deficient patients underscores two key observations: patients with severe loss-of-function variants associated with SP-B complete deficiency presented symptoms at birth and died at a median age of 1 month; and extremely rare cases of hypomorphic variants with partially preserved SP-B function may allow survival.","PeriodicalId":23284,"journal":{"name":"Thorax","volume":"82 1","pages":""},"PeriodicalIF":9.0000,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Thorax","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/thorax-2024-221947","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0
Abstract
Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information. This study that reports a series of 11 SP-B-deficient patients underscores two key observations: patients with severe loss-of-function variants associated with SP-B complete deficiency presented symptoms at birth and died at a median age of 1 month; and extremely rare cases of hypomorphic variants with partially preserved SP-B function may allow survival.
期刊介绍：
Thorax stands as one of the premier respiratory medicine journals globally, featuring clinical and experimental research articles spanning respiratory medicine, pediatrics, immunology, pharmacology, pathology, and surgery. The journal's mission is to publish noteworthy advancements in scientific understanding that are poised to influence clinical practice significantly. This encompasses articles delving into basic and translational mechanisms applicable to clinical material, covering areas such as cell and molecular biology, genetics, epidemiology, and immunology.
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