Research & Literature

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Hayashi S, Yagi M, Morisaki I, Inazawa J

Journal of human genetics 2015; (60(4)):203-6 doi:10.1038/jhg.2014.123.

Surfactant lipidomics in healthy children and childhood interstitial lung disease.

Griese M, Kirmeier HG, Liebisch G, et al.

PloS one 2015; (10(2)):e0117985 doi:10.1371/journal.pone.0117985.

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Jackson T, Wegner DJ, White FV, et al.

Journal of perinatology : official journal of the California Perinatal Association 2015; (35(3)):231-2 doi:10.1038/jp.2014.236.

European protocols for the diagnosis and initial treatment of interstitial lung disease in children.

Bush A, Cunningham S, de Blic J, et al.

Thorax 2015; (70(11)):1078-84 doi:10.1136/thoraxjnl-2015-207349.

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

Peca D, Cutrera R, Masotti A, et al.

Biochemical Society transactions 2015; (43(5)):913-9 doi:10.1042/BST20150100.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Nathan N, Giraud V, Picard C, et al.

Human molecular genetics 2016; (25(8)):1457-67 doi:10.1093/hmg/ddw014.

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.

Wittmann T, Frixel S, Höppner S, et al.

Molecular medicine (Cambridge, Mass.) 2016; (22()):183-191 doi:10.2119/molmed.2015.00244.

Pulmonary hypertension associated with acute or chronic lung diseases in the preterm and term neonate and infant. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.

Hilgendorff A, Apitz C, Bonnet D, Hansmann G

Heart (British Cardiac Society) 2016; (102 Suppl 2()):ii49-56 doi:10.1136/heartjnl-2015-308591.

Lung disease caused by ABCA3 mutations.

Kröner C, Wittmann T, Reu S, et al.

Thorax 2017; (72(3)):213-220 doi:10.1136/thoraxjnl-2016-208649.

Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature.

Bromley S, Vizcaya D

Pediatric pulmonology 2017; (52(5)):689-698 doi:10.1002/ppul.23632.

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

Eldridge WB, Zhang Q, Faro A, et al.

The Journal of pediatrics 2017; (184()):157-164.e2 doi:10.1016/j.jpeds.2017.01.017.

Quality of life outcomes following pediatric lung transplantation.

Lazor T, Grasemann H, Solomon M, Anthony SJ

Pediatric pulmonology 2017; (52(11)):1495-1501 doi:10.1002/ppul.23788.

Interstitial lung disease: the diagnostic role of bronchoscopy.

Kebbe J, Abdo T

Journal of thoracic disease 2017; (9(Suppl 10)):S996-S1010 doi:10.21037/jtd.2017.06.39.

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

Somaschini M, Presi S, Ferrari M, et al.

Journal of perinatology : official journal of the California Perinatal Association 2018; (38(4)):337-344 doi:10.1038/s41372-017-0018-2.

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

Schindlbeck U, Wittmann T, Höppner S, et al.

Human mutation 2018; (39(6)):841-850 doi:10.1002/humu.23416.

Diagnostic accuracy and therapeutic relevance of thoracoscopic lung biopsies in children.

Fortmann C, Schwerk N, Wetzke M, et al.

Pediatric pulmonology 2018; (53(7)):948-953 doi:10.1002/ppul.23999.

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Shinohara H, Takagi M, Ito K, et al.

Thyroid : official journal of the American Thyroid Association 2018; (28(8)):1071-1073 doi:10.1089/thy.2017.0481.

An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.

Katzen J, Wagner BD, Venosa A, et al.

JCI insight 2019; (4(6)).

Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations.

Parnes M, Bashir H, Jankovic J

Movement disorders clinical practice 2019; (6(1)):34-39 doi:10.1002/mdc3.12690.

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.

Doubková M, Staňo Kozubík K, Radová L, et al.

Human genome variation 2019; (6()):12 doi:10.1038/s41439-019-0044-z.

High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).

LeMoine BD, Browne LP, Liptzin DR, et al.

Pediatric radiology 2019; (49(7)):869-875 doi:10.1007/s00247-019-04388-3.

Full-Term Neonatal Respiratory Distress and Chronic Lung Disease.

Chowdhury N, Giles BL, Dell SD

Pediatric annals 2019; (48(4)):e175-e181 doi:10.3928/19382359-20190328-01.

Genetic causes of surfactant protein abnormalities.

Nogee LM

Current opinion in pediatrics 2019; (31(3)):330-339 doi:10.1097/MOP.0000000000000751.

Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.

Hong D, Dai D, Liu J, et al.

Italian journal of pediatrics 2019; (45(1)):117 doi:10.1186/s13052-019-0710-2.

Persistent Respiratory Distress in the Term Neonate: Genetic Surfactant Deficiency Diseases.

Magnani JE, Donn SM

Current pediatric reviews 2020; (16(1)):17-25 doi:10.2174/1573396315666190723112916.

Influence of early extubation on post-operative outcomes after pediatric lung transplantation.

Labarinas S, Coss-Bu JA, Onyearugbulem C, et al.

Pediatric transplantation 2021; (25(2)):e13776 doi:10.1111/petr.13776.

ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease.

Cho JG, Thakkar D, Buchanan P, et al.

Respirology case reports 2020; (8(7)):e00633 doi:10.1002/rcr2.633.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Legendre M, Butt A, Borie R, et al.

The European respiratory journal 2020; (56(6)) doi:10.1183/13993003.02806-2020.

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Shaaban W, Hammoud M, Abdulraheem A, et al.

Journal of medical case reports 2021; (15(1)):54 doi:10.1186/s13256-020-02604-5.

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations.

DeBoer EM, Liptzin DR, Humphries SM, et al.

Pediatric pulmonology 2021; (56(7)):2223-2231 doi:10.1002/ppul.25356.

Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.

Dickens JA, Rutherford EN, Abreu S, et al.

The European respiratory journal 2022; (59(1)) doi:10.1183/13993003.00267-2021.

Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant.

Acosta-Rivera V, Melendez-Montañez JM, Diaz-Sotomayor F, De Jesús-Rojas W

Cureus 2021; (13(8)):e17422 doi:10.7759/cureus.17422.

Lung cancer is also a hereditary disease.

Benusiglio PR, Fallet V, Sanchis-Borja M, et al.

European respiratory review : an official journal of the European Respiratory Society 2021; (30(162)) doi:10.1183/16000617.0045-2021.

Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report.

Tan YX, Li SJ, Li HT, et al.

Medicine 2021; (100(50)):e28201 doi:10.1097/MD.0000000000028201.

Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction.

Cooney AL, Wambach JA, Sinn PL, McCray PB

Frontiers in genome editing 2021; (3()):785829 doi:10.3389/fgeed.2021.785829.

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.

Xu KK, Wegner DJ, Geurts LC, et al.

Pediatric pulmonology 2022; (57(5)):1325-1330 doi:10.1002/ppul.25862.

Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation.

Rogulska J, Wróblewska-Seniuk K, Śmigiel R, et al.

Diagnostics (Basel, Switzerland) 2022; (12(5)) doi:10.3390/diagnostics12051084.

Improved Outcomes for Infants and Young Children Undergoing Lung Transplantation at Three Years of Age and Younger.

Melicoff E, Spielberg DR, Heinle JS, et al.

Annals of the American Thoracic Society 2023; (20(2)):254-261 doi:10.1513/AnnalsATS.202202-093OC.

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.

Balinotti JE, Mallie C, Maffey A, et al.

Pediatric pulmonology 2023; (58(2)):540-549 doi:10.1002/ppul.26225.

Home continuous positive airway pressure therapy in infants: a single-center experience.

Joshi SS, Sivapalan D, Leclerc MJ, Kapur N

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2023; (19(3)):473-477 doi:10.5664/jcsm.10366.

ABCA3-related interstitial lung disease beyond infancy.

Li Y, Seidl E, Knoflach K, et al.

Thorax 2023; (78(6)):587-595 doi:10.1136/thorax-2022-219434.

Diagnostic workup of childhood interstitial lung disease.

Nathan N, Griese M, Michel K, et al.

European respiratory review : an official journal of the European Respiratory Society 2023; (32(167)) doi:10.1183/16000617.0188-2022.

Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.

Terpe F, Schwerk N, Griese M, et al.

Pediatrics 2023; (151(6)) doi:10.1542/peds.2022-060038.

Congenital surfactant protein B (SP-B) deficiency: a case report.

Khalsi F, Chaabene M, Romdhane MB, et al.

The Pan African medical journal 2023; (44()):158 doi:10.11604/pamj.2023.44.158.35316.

[Surfactant protein C dysfunction in pediatric patients: Clinical Case].

Nuñez-Paucar H, Valera-Moreno C, Atamari-Anahui N, et al.

Andes pediatrica : revista Chilena de pediatria 2022; (93(5)):733-740 doi:10.32641/andespediatr.v93i5.3873.

Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.

Wang H, Jiang G, Dai D, et al.

Pediatric research 2024; (95(3)):744-751 doi:10.1038/s41390-023-02882-x.

Pulmonary surfactant metabolism dysfunction: A pediatric clinical case report.

Cambaceres C, Viggiano V, Parellada C, et al.

Archivos argentinos de pediatria 2024; (122(3)):e202310084 doi:10.5546/aap.2023-10084.eng.

The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.

Cassibba J, Epaud R, Berteloot L, et al.

Pediatric pulmonology 2024; (59(2)):417-425 doi:10.1002/ppul.26765.

Towards personalized therapies for genetic disorders of surfactant dysfunction.

Peers de Nieuwburgh M, Wambach JA, Griese M, Danhaive O

Seminars in fetal & neonatal medicine 2023; (28(6)):101500 doi:10.1016/j.siny.2023.101500.

Mortality of Pediatric Surgical Lung Biopsies in Ontario, Canada, 2000-2019.

Wee WB, Shapera S, To T, et al.

Annals of the American Thoracic Society 2024; (21(5)):767-773 doi:10.1513/AnnalsATS.202304-306OC.

Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.

Skwara J, Nowicki M, Sharif L, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2024; (131(9)):1013-1024 doi:10.1007/s00702-024-02800-3.

Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.

Fletcher C, Hadchouel A, Thumerelle C, et al.

Thorax 2024; (79(9)):842-852 doi:10.1136/thorax-2023-221325.

Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.

Carmona-Hidalgo B, Martín-Gómez C, Herrera-Ramos E, et al.

PloS one 2024; (19(7)):e0303880 doi:10.1371/journal.pone.0303880.

Do we neglect nutrition in childhood interstitial lung disease?

Emiralioglu N, Kiper N

European journal of clinical nutrition 2024; (78(12)):1023-1024 doi:10.1038/s41430-024-01485-x.

Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.

Griese M, Kurland G, Cidon M, et al.

Thorax 2024; (79(12)):1162-1172 doi:10.1136/thorax-2024-221772.

The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.

Drobňaková S, Vargová V, Barkai L

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080904.

Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice.

Predella C, Lapsley L, Ni K, et al.

Research square 2024; doi:10.21203/rs.3.rs-4673915/v1.

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.

Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, et al.

PloS one 2024; (19(10)):e0309064 doi:10.1371/journal.pone.0309064.

Surfactant protein B deficiency: the RespiRare cohort.

Fleury M, Delestrain C, Roditis L, et al.

Thorax 2025; (80(2)):109-112 doi:10.1136/thorax-2024-221947.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Manali ED, Griese M, Nathan N, et al.

The European respiratory journal 2025; (65(2)) doi:10.1183/13993003.00680-2024.

Home Enteral Tube Feeding in Children and Young People: A Review of Current Literature on Optimum Frequency and Mode of Dietetic Assessment and Monitoring in the Community Setting.

Baker H, Durnan S, Pugh P

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2025; (38(2)):e70044 doi:10.1111/jhn.70044.

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases.

Voss LA, Nevel RJ, Wambach JA, et al.

Pediatric pulmonology 2025; (60(4)):e71073 doi:10.1002/ppul.71073.

Gold Standard Home Nasogastric Tube Feeding for Infants and Children.

, Breik L, Chaffey E, et al.

Journal of paediatrics and child health 2025; (61(7)):1006-1013 doi:10.1111/jpc.70052.

Genetic Disorders of Surfactant Metabolism.

Nevel RJ, Brennan SK, Wambach JA

NeoReviews 2025; (26(5)):e328-e338 doi:10.1542/neo.26-5-014.

Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review.

Michel K, Ruiz-Ramos A, Nou-Fontanet L, et al.

Frontiers in medicine 2025; (12()):1507513 doi:10.3389/fmed.2025.1507513.

Health-Related Quality of Life After Pediatric Lung Transplantation.

Martin N, Nachbaur E, Szépfalusi Z, et al.

Pediatric pulmonology 2025; (60(6)):e71157 doi:10.1002/ppul.71157.

A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review.

Sengul Y, Gosche E, Hazelton T

Radiology case reports 2025; (20(9)):4299-4303 doi:10.1016/j.radcr.2025.05.051.

THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.

McCray PB

Transactions of the American Clinical and Climatological Association 2025; (135()):119-129.

Progressive respiratory failure in a term neonate with ABCA3 surfactant deficiency: Beyond the common causes of respiratory distress.

Beverstock AM, Lee HC, McNeill DSM, Hanna M

Journal of neonatal-perinatal medicine 2026; (19(2)):237-241 doi:10.1177/19345798251371042.

A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.

Tang X, Zhao S, Shen Y, et al.

Italian journal of pediatrics 2025; (51(1)):265 doi:10.1186/s13052-025-02110-8.

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Fleury M, Delestrain C, Hadchouel A, et al.

Pediatric pulmonology 2025; (60(10)):e71324 doi:10.1002/ppul.71324.

Case Report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease.

Qing D, Xu X, Shi T, et al.

Frontiers in pediatrics 2025; (13()):1619722 doi:10.3389/fped.2025.1619722.

Treatable Traits in Pediatric Interstitial Lung Diseases: Bridging the Gap to Tailored Therapeutics.

Parisi GF, Papale M, Pecora G, et al.

Journal of clinical medicine 2025; (14(22)) doi:10.3390/jcm14228190.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Nou-Fontanet L, Ravelli C, Burglen L, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(4)):889-900 doi:10.1002/mds.70187.

Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.

Cooney AL, Lamer S, Yang P, et al.

American journal of respiratory cell and molecular biology 2026; (74(8)):1089-1102 doi:10.1093/ajrcmb/aanag043.

Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants.

Ramírez VO, Wambach JA, Nevel RJ, et al.

Pediatric pulmonology 2026; (61(6)):e71695 doi:10.1002/ppul.71695.

Prophylactic versus selective use of surfactant for preventing morbidity and mortality in preterm infants at risk of respiratory distress syndrome.

Beijers RJ, Alonso-Fernández S, Soll RF, et al.

The Cochrane database of systematic reviews 2026; (7()):CD000510 doi:10.1002/14651858.CD000510.pub3.

An update to the classification, evaluation, and management of childhood interstitial lung disease in infancy: an official American Thoracic Society Clinical Practice Guideline.

McGraw MD, DeBoer E, Weinman JP, et al.

American journal of respiratory and critical care medicine 2026; (212(10)):2308-2337 doi:10.1093/ajrccm/aamag375.

The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting.

Goussard P, Schubert P, van Wyk L, et al.

Canadian respiratory journal 2026; (2026(1)):e1509295 doi:10.1155/carj/1509295.

Adulthood interstitial lung disease due to variants in surfactant related genes: A systematic review.

Tirelli C, Sanduzzi Zamparelli S, Louvrier C, et al.

Pulmonology 2026; (32(1)):2736380 doi:10.1080/25310429.2026.2736380.

Neonatal respiratory distress beyond common causes: surfactant dysfunction disorders and other etiologies of childhood interstitial lung disease.

Ünlü A, Bilgiç I, Kürtül Çakar M, et al.

Frontiers in pediatrics 2026; (14()):1940912 doi:10.3389/fped.2026.1940912.