Surfactant protein B deficiency: the RespiRare cohort
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.
Authors
- Harriet Corvol (ORCID: https://orcid.org/0000-0002-7026-7523)
- C. Thumerelle (ORCID: https://orcid.org/0000-0002-3365-2035)
- Alix de Becdelièvre (ORCID: https://orcid.org/0000-0002-0488-3475)
- Hubert Ducou Le Pointe (ORCID: https://orcid.org/0000-0002-6667-8629)
- Aurore Coulomb L’Herminé (ORCID: https://orcid.org/0000-0002-0945-7379)
- Caroline Périsson
- Nadia Nathan (ORCID: https://orcid.org/0000-0001-5149-7975)
- Marie Legendre (ORCID: https://orcid.org/0000-0003-2178-0846)
- Pascale Fanen (ORCID: https://orcid.org/0000-0002-3273-5349)
- Camille Louvrier (ORCID: https://orcid.org/0000-0003-2105-1117)
- Léa Roditis (ORCID: https://orcid.org/0000-0002-5599-2962)
- Céline Delestrain (ORCID: https://orcid.org/0000-0002-5577-5327)
- Manon Fleury
- Ralph Epaud (ORCID: https://orcid.org/0000-0003-3830-1039)
- Chiara Siléo (ORCID: https://orcid.org/0000-0001-6406-1951)
- Nouha Jedidi
- Camille Fletcher
- Marie‐Catherine Renoux
Institutions
- Inserm (FR)
- Université Fédérale de Toulouse Midi-Pyrénées (FR)
- Université Paris-Est Créteil (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Centre Hospitalier Universitaire de La Réunion (RE)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Saint-Antoine (FR)
- Hôpital Jeanne de Flandre (FR)
- Centre de Recherche Saint-Antoine (FR)
- Hôpital Intercommunal de Créteil (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Maladies génétiques d’expression pédiatrique
Publication Details
- Journal
- Thorax
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1136/thorax-2024-221947
- Citations
- 3
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 1.26