Surfactant protein B deficiency: the RespiRare cohort

Manon Fleury¹, Céline Delestrain^{2

3}, Léa Roditis⁴, Caroline Perisson⁵, Marie-Catherine Renoux⁶, Caroline Thumerelle⁷, Ralph Epaud^{2

3}, Camille Fletcher², Nouha Jedidi⁸, Aurore Coulomb L'Hermine⁹, Harriet Corvol^{1

10}, Hubert Ducou le Pointe¹¹, Pascale Fanen^{3

12}, Chiara Sileo¹¹, Camille Louvrier^{13

14}, Alix de Becdelievre^{3

12}, Marie Legendre^{13

14}, Nadia Nathan^{15

14}

Affiliations

¹ Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.
² Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.
³ INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.
⁴ Pediatric Pulmonology Department, University Hospital, Toulouse, France.
⁵ Pediatric Department, La Réunion Sites Sud University Hospital, Saint-Pierre, France.
⁶ Pediatric Pulmonology Department, University hospital, Montpellier, France.
⁷ Pediatric Pulmonology Department, Jeanne de Flandre University Hospital, Lille, France.
⁸ Clinical research Department, Saint-Antoine Hospital, Sorbonne University, Paris, France.
⁹ Pathology Department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹⁰ Inserm UMR S_938, Centre de Recherche Saint Antoine, Sorbonne University, Paris, France.
¹¹ Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹² Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France.
¹³ AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.
¹⁴ Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹⁵ Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France nadia.nathan@aphp.fr.

PMID: 39632082
DOI: 10.1136/thorax-2024-221947

Surfactant protein B deficiency: the RespiRare cohort

Manon Fleury et al. Thorax. 2025.

. 2025 Jan 17;80(2):109-112.

doi: 10.1136/thorax-2024-221947.

Authors

Affiliations

¹ Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.
² Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.
³ INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.
⁴ Pediatric Pulmonology Department, University Hospital, Toulouse, France.
⁵ Pediatric Department, La Réunion Sites Sud University Hospital, Saint-Pierre, France.
⁶ Pediatric Pulmonology Department, University hospital, Montpellier, France.
⁷ Pediatric Pulmonology Department, Jeanne de Flandre University Hospital, Lille, France.
⁸ Clinical research Department, Saint-Antoine Hospital, Sorbonne University, Paris, France.
⁹ Pathology Department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹⁰ Inserm UMR S_938, Centre de Recherche Saint Antoine, Sorbonne University, Paris, France.
¹¹ Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹² Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France.
¹³ AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.
¹⁴ Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.
¹⁵ Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France nadia.nathan@aphp.fr.

PMID: 39632082
DOI: 10.1136/thorax-2024-221947

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.

Keywords: Paediatric interstitial lung disease; Surfactant protein.

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Conflict of interest statement

Competing interests: None declared.

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Surfactant protein B deficiency: the RespiRare cohort

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Surfactant protein B deficiency: the RespiRare cohort

Authors

Affiliations

Abstract

Conflict of interest statement

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LinkOut - more resources

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Medical