Paper

Kids Lung Registry and Child-EU Project - Progress in Rare and Interstitial Lung Diseases in Childhood Through Collaboration
Griese M, Gold A, Gothe F, Kaiser H, Kammer B, Kappler M, Krueger-Stollfuss I, Ley-Zaporozhan J, Michel K, Rapp CK, Reu-Hofer S, Rock H, Schams A, Tran NB, Schwerk N. Kinderlungenregister (chILD-EU) – Zusammenarbeit führt zu Fortschritten bei den seltenen und interstitiellen Lungenerkrankungen [Kids Lung Registry and Child-EU Project - Progress in Rare and Interstitial Lung Diseases in Childhood Through Collaboration]. Klin Padiatr. 2023 Dec 18. German. doi: 10.1055/a-2214-7090. Epub ahead of print. PMID: 38109904.

Nintedanib in children and adolescents with fibrosing interstitial lung diseases
Deterding R, Young LR, DeBoer EM, Warburton D, Cunningham S, Schwerk N, Flaherty KR, Brown KK, Dumistracel M, Erhardt E, Bertulis J, Gahlemann M, Stowasser S, Griese M; InPedILD trial investigators.Eur Respir J. 2023 Feb 2;61(2):2201512. doi: 10.1183/13993003.01512-2022. Print 2023 Feb.PMID: 36041751 . Clinical Trial.

Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!
Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, Robinson PN, Griese M; ChILD EU Collaborators. Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies! Pediatr Pulmonol. 2023 Jan 1. doi: 10.1002/ppul.26301. Epub ahead of print. PMID: 36588100.

Interstitial Lung Disease in Immunocompromised Children
Gao X, Michel K, Griese M. Interstitial Lung Disease in Immunocompromised Children. Diagnostics (Basel). 2022 Dec 26;13(1):64. doi: 10.3390/diagnostics13010064. PMID: 36611354; PMCID: PMC9818431.

Minimal important difference in childhood interstitial lung diseases
Griese M, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Lange J, Krenke K; chILD collaborators; Seidl E. Minimal important difference in childhood interstitial lung diseases. Thorax. 2022 Dec 26:thoraxjnl-2022-219206. doi: 10.1136/thorax-2022-219206. Epub ahead of print. PMID: 36572533.

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. PMID: 36275728; PMCID: PMC9583393.

Genetic testing in interstitial lung disease: An international survey
Terwiel M, Borie R, Crestani B, Galvin L, Bonella F, Fabre A, Froidure A, Griese M, Grutters JC, Johannson K, Kannengiesser C, Kawano-Dourado L, Molina-Molina M, Prasse A, Renzoni EA, van der Smagt J, Poletti V, Antoniou K, van Moorsel CHM. Genetic testing in interstitial lung disease: An international survey. Respirology. 2022 Sep;27(9):747-757. doi: 10.1111/resp.14303. Epub 2022 Jun 2. PMID: 35652243.

Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases
Del Álamo M, Bührer C, Fisher D, Griese M, Lingor P, Palladini G, Sireau N, Hivert V, Sangiorgi L, Guillot F, Halftermeyer J, Soucková L, Nosková K, Demlová R. Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases. Trials. 2022 Sep 15;23(1):783. doi: 10.1186/s13063-022-06713-y. PMID: 36109818; PMCID: PMC9479412.

Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease
Griese M, Kappler M, Stehling F, Schulze J, Baden W, Koerner-Rettberg C, Carlens J, Prenzel F, Nährlich L, Thalmeier A, Sebah D, Kronfeld K, Rock H, Ruckes C; HCQ-study group; Wetzke M, Seidl E, Schwerk N. Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease. Orphanet J Rare Dis. 2022 Jul 23;17(1):289. doi: 10.1186/s13023-022-02399-2. PMID: 35871071; PMCID: PMC9308121.

Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease
Raedler J, Hoelz H, Zschocke A, Loeffler-Ragg J, Paolini M, Ley-Zaporozhan J, Griese M. Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease. Diagnostics (Basel). 2022 Jul 7;12(7):1653. doi: 10.3390/diagnostics12071653. PMID: 35885557; PMCID: PMC9323848.

Childhood Interstitial Lung Disease (chILD): shining a new light on childhood
Casey A, Deterding R. Childhood Interstitial Lung Disease (chILD): shining a new light on childhood! Thorax. 2022 Aug;77(8):742. doi: 10.1136/thoraxjnl-2022-218727. Epub 2022 Mar 21. PMID: 35314484.

Autoimmune pulmonary alveolar proteinosis in children
Griese M, Panagiotou P, Manali ED, Stahl M, Schwerk N, Costa V, Douros K, Kallieri M, Urbantat RM, von Bernuth H, Kolilekas L, Morais L, Ramos A, Landwehr K, Knoflach K, Gothe F, Reiter K, Papaevangelou V, Kaditis AG, Kanaka-Gantenbein C, Papiris SA. Autoimmune pulmonary alveolar proteinosis in children. ERJ Open Res. 2022 Mar 21;8(1):00701-2021. doi: 10.1183/23120541.00701-2021. PMID: 35350279; PMCID: PMC8943280.

Etiologic Classification of Diffuse Parenchymal (Interstitial) Lung Diseases
Griese M. Etiologic Classification of Diffuse Parenchymal (Interstitial) Lung Diseases. J Clin Med. 2022 Mar 21;11(6):1747. doi: 10.3390/jcm11061747. PMID: 35330072; PMCID: PMC8950114.

Interstitial lung disease in infancy and early childhood: a clinicopathological primer

Laenger FP, Schwerk N, Dingemann J, Welte T, Auber B, Verleden S, Ackermann M, Mentzer SJ, Griese M, Jonigk D. Interstitial lung disease in infancy and early childhood: a clinicopathological primer. Eur Respir Rev. 2022 Mar 9;31(163):210251. doi: 10.1183/16000617.0251-2021. PMID: 35264412.

Healthcare resource utilisation and medical costs for children with interstitial lung diseases (chILD) in Europe
Seidl E, Schwerk N, Carlens J, Wetzke M, Cunningham S, Emiralioğlu N, Kiper N, Lange J, Krenke K, Ullmann N, Krikovszky D; chILD-EU collaborators, Maqhuzu P, Griese CA, Schwarzkopf L, Griese M. Thorax. 2022 Feb 11:thoraxjnl-2021-217751. doi: 10.1136/thoraxjnl-2021-217751. Epub ahead of print. PMID: 35149583.

Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation

Seidl E, Schramm D, Schön C, Reiter K, Pawlita I, Kappler M, Reu-Hofer S, Hauck F, Albert M, Griese M. Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation. Pediatr Pulmonol. 2022 Jan;57(1):273-277. doi: 10.1002/ppul.25728. Epub 2021 Nov 15. PMID: 34647697.

Interventional Bronchus Occlusion Using Amplatzer Devices - A Promising Treatment Option for Children with Persistent Air Leak
Schütz K, Happel CM, Keil O, Dingemann J, Carlens J, Wetzke M, Müller C, Köditz H, Griese M, Reiter K, Schweiger-Kabesch A, Backendorf A, Scharff A, Bertram H, Schwerk N. Interventional Bronchus Occlusion Using Amplatzer Devices - A Promising Treatment Option for Children with Persistent Air Leak. Klin Padiatr. 2022 Jan 3. English. doi: 10.1055/a-1697-5624. Epub ahead of print. PMID: 34979579.

High-Content Screening Identifies Cyclosporin A as a Novel ABCA3-1 Specific Molecular Corrector
Forstner M, Lin S, Yang X, Kinting S, Rothenaigner I, Schorpp K, Li Y, Hadian K, Griese M. Am J Respir Cell Mol Biol. 2021 Dec 22. doi: 10.1165/rcmb.2021-0223OC. Epub ahead of print. PMID: 34936540.

Case Report: Unilateral Sixth Cranial Nerve Palsy Associated With COVID-19 in a 2-year-old Child
Knoflach K, Holzapfel E, Roser T, Rudolph L, Paolini M, Muenchhoff M, Osterman A, Griese M, Kappler M, von Both U. Case Report: Unilateral Sixth Cranial Nerve Palsy Associated With COVID-19 in a 2-year-old Child. Front Pediatr. 2021 Dec 17;9:756014. doi: 10.3389/fped.2021.756014. PMID: 34976891; PMCID: PMC8718702.

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

Alba Torrent-Vernetta, Mirella Gaboli, Silvia Castillo-Corullón, Pedro Mondéjar-López, Verónica Sanz Santiago, Jordi Costa-Colomer, Borja Osona, Javier Torres-Borrego, Olga de la Serna-Blázquez, Sara Bellón Alonso, Pilar Caro Aguilera, Álvaro Gimeno-Díaz de Atauri, Alfredo Valenzuela Soria, Roser Ayats, Carlos Martin de Vicente, Valle Velasco González, José Domingo Moure González, Elisa María Canino Calderín, María Dolores Pastor-Vivero, María Ángeles Villar Álvarez, Sandra Rovira-Amigo, Ignacio Iglesias Serrano, Ana Díez Izquierdo, Inés de Mir Messa, Silvia Gartner, Alexandra Navarro, Noelia Baz-Redón, Rosario Carmona, Núria Camats-Tarruella, Mónica Fernández-Cancio, Christina Rapp, Joaquin Dopazo, Matthias Griese, Antonio Moreno-Galdó, Archivos de Bronconeumología, Vol. 58, Issue 1, 2022, Pages 22-29, ISSN 0300-2896, https://doi.org/10.1016/j.arbres.2021.06.001.

The improved clinical course of persistent tachypnea of infancy with inhaled bronchodilators and corticosteroids

Marczak H, Peradzyńska J, Seidl E, Griese M, Urbankowski T, Lange J, Bogusławski S, Krenke K. Pediatr Pulmonol. 2021 Dec;56(12):3952-3959. doi: 10.1002/ppul.25674. Epub 2021 Sep 21. PMID: 34520130.

Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients
Gothe F, Gehrig J, Rapp CK, Knoflach K, Reu-Hofer S, Länger F, Schramm D, Ley-Zaporozhan J, Ehl S, Schwerk N, Faletti L, Griese M. Pediatr Pulmonol. 2021 Dec;56(12):3934-3941. doi: 10.1002/ppul.25684. Epub 2021 Sep 28. PMID: 34549903.

Case Report: Pediatric Renal Sarcoidosis and Prognostic Factors in Reviewed Cases

Klaus R, Jansson AF, Griese M, Seeman T, Amann K, Lange-Sperandio B. Case Report: Pediatric Renal Sarcoidosis and Prognostic Factors in Reviewed Cases. Front Pediatr. 2021 Sep 13;9:724728. doi: 10.3389/fped.2021.724728. PMID: 34589456; PMCID: PMC8475649.

Insights Into Patient Variability During Ivacaftor-Lumacaftor Therapy in Cystic Fibrosis
Hanafin PO, Sermet-Gaudelus I, Griese M, Kappler M, Ellemunter H, Schwarz C, Wilson J, Tan M, Velkov T, Rao GG, Schneider-Futschik EK. Insights Into Patient Variability During Ivacaftor-Lumacaftor Therapy in Cystic Fibrosis. Front Pharmacol. 2021 Aug 2;12:577263. doi: 10.3389/fphar.2021.577263. PMID: 34408649; PMCID: PMC8365608.

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M. Clin Genet. 2021 Oct;100(4):453-461. doi: 10.1111/cge.14016. Epub 2021 Jul 14. PMID: 34165204.

Study design of a randomised, placebocontrolled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease
Deterding R, Griese M, Deutsch G, Warburton D, DeBoer EM, Cunningham S, Clement A, Schwerk N, Flaherty KR, Brown KK, Voss F, Schmid U, Schlenker-Herceg R, Verri D, Dumistracel M, Schiwek M, Stowasser S, Tetzlaff K, Clerisme-Beaty E, Young LR. ERJ Open Res. 2021 Jun 21;7(2):00805-2020. doi: 10.1183/23120541.00805-2020. PMID: 34164554; PMCID: PMC8215331.

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. PMID: 34145065; PMCID: PMC8392508.

Hypersensitivity pneumonitis: Lessons from a randomized controlled trial in children
Griese M, Stehling F, Schwerk N, Rosewich M, Jerkic P, Rock H, Ruckes C, Kronfeld K, Sebah D, Wetzke M, Seidl E, Pediatric Pulmonology 2021 May 28. doi: 10.1002/ppul.25513.

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Schuch LA, Forstner M, Rapp CK, Li Y, Smith DEC, Mendes MI, Delhommel F, Sattler M, Emiralioğlu N, Taskiran EZ, Orhan D, Kiper N, Rohlfs M, Jeske T, Hastreiter M, Gerstlauer M, Torrent-Vernetta A, Moreno-Galdó A, Kammer B, Brasch F, Reu-Hofer S, Griese M. Clin Genet. 2021 Jun;99(6):789-801. doi: 10.1111/cge.13943. Epub 2021 Feb 28. PMID: 33598926.

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. PMID: 33872655; PMCID: PMC8569286.

Acute exacerbations in children’s interstitial lung disease
Seidl E, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Lange J, Krenke K, Szepfalusi Z, Stehling F, Baden W, Hämmerling S, Jerkic SP, Proesmans M, Ullmann N, Buchvald F, Knoflach K, Kappler M; chILD EU collaborators, Griese M. Thorax. 2022 Feb 11:thoraxjnl-2021-217941. doi: 10.1136/thoraxjnl-2021-217941. Epub ahead of print. PMID: 35149584.

Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor for 24 Weeks or Longer in People with Cystic Fibrosis and One or More F508del Alleles: Interim Results of an Open-Label Phase 3 Clinical Trial
Griese M, Costa S, Linnemann RW, Mall MA, McKone EF, Polineni D, Quon BS, Ringshausen FC, Taylor-Cousar JL, Withers NJ, Moskowitz SM, Daines CL. Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor for 24 Weeks or Longer in People with Cystic Fibrosis and One or More F508del Alleles: Interim Results of an Open-Label Phase 3 Clinical Trial. Am J Respir Crit Care Med. 2021 Feb 1;203(3):381-385. doi: 10.1164/rccm.202008-3176LE. PMID: 32969708; PMCID: PMC8020728.

The Human Phenotype Ontology in 2021
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. PMID: 33264411; PMCID: PMC7778952.

Comorbidity and long-term clinical outcome of laryngotracheal clefts types III and IV: Systematic analysis of new cases
Seidl E, Kramer J, Hoffmann F, Schön C, Griese M, Kappler M, Lisec K, Hubertus J, von Schweinitz D, Di Dio D, Sittel C, Reiter K. Comorbidity and long-term clinical outcome of laryngotracheal clefts types III and IV: Systematic analysis of new cases. Pediatr Pulmonol. 2021 Jan;56(1):138-144. doi: 10.1002/ppul.25133. Epub 2020 Nov 5. PMID: 33095514.

Pulmonary function testing in children's interstitial lung disease.
Ring AM, Carlens J, Bush A, Castillo-Corullón S, Fasola S, Gaboli MP, Griese M, Koucky V, La Grutta S, Lombardi E, Proesmans M, Schwerk N, Snijders D, Nielsen KG, Buchvald F.Eur Respir Rev. 2020 Jul 21;29(157):200019. doi: 10.1183/16000617.0019-2020. Print 2020 Sep 30.PMID: 32699025 Free article. Review.

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Lenz D, Stahl M, Seidl E, Schöndorf D, Brennenstuhl H, Gesenhues F, Heinzmann T, Longerich T, Mendes MI, Prokisch H, Salomons GS, Schön C, Smith DEC, Sommerburg O, Wagner M, Westhoff JH, Reiter K, Staufner C, Griese M.Pediatr Pulmonol. 2020 Aug 24. doi: 10.1002/ppul.25031.

Persistent tachypnea of infancy: Follow up at school age.
Seidl E, Carlens J, Schwerk N, Wetzke M, Marczak H, Lange J, Krenke K, Mayell SJ, Escribano A, Seidenberg J, Ahrens F, Hebestreit H, Nährlich L, Sismanlar T, Aslan AT, Snijders D, Ullmann N, Kappler M, Griese M.Pediatr Pulmonol. 2020 Aug 6. doi: 10.1002/ppul.25004.

Variation in the bombesin staining of pulmonary neuroendocrine cells in pediatric pulmonary disorders-A useful marker for airway maturity.
Emiralioğlu N, Orhan D, Cinel G, Tuğcu GD, Yalçın E, Doğru D, Özçelik U, Griese M, Kiper N. Pediatr Pulmonol. 2020 Jun 18. doi: 10.1002/ppul.24910.

Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial.
Griese M, Köhler M, Witt S, Sebah D, Kappler M, Wetzke M, Schwerk N, Emiralioglu N, Kiper N, Kronfeld K, Ruckes C, Rock H, Anthony G, Seidl E.Trials. 2020 Apr 3;21(1):307. doi: 10.1186/s13063-020-4188-4.PMID: 32245508 Free PMC article.

Treating Allergic Bronchopulmonary Aspergillosis with Short-Term Prednisone and Itraconazole in Cystic Fibrosis
Gothe F, Schmautz A, Häusler K, Tran NB, Kappler M, Griese M. Treating Allergic Bronchopulmonary Aspergillosis with Short-Term Prednisone and Itraconazole in Cystic Fibrosis. J Allergy Clin Immunol Pract. 2020 Sep;8(8):2608-2614.e3. doi: 10.1016/j.jaip.2020.02.031. Epub 2020 Mar 6. PMID: 32147521.

Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry-based case series.
Prenzel F, Harfst J, Schwerk N, Ahrens F, Rietschel E, Schmitt-Grohé S, Rubak SML, Poplawska K, Baden W, Vogel M, Hollizeck S, Ley-Zaporozhan J, Brasch F, Reu S, Griese M; LIP/FB-Kids-Lung-Registry Study Group.Pediatr Pulmonol. 2020 Apr;55(4):909-917. doi: 10.1002/ppul.24680. Epub 2020 Feb 10.PMID: 32040879

Postinfectious Bronchiolitis Obliterans in Children: Diagnostic Workup and Therapeutic Options: A Workshop Report.
Jerkic SP, Brinkmann F, Calder A, Casey A, Dishop M, Griese M, Kurland G, Niemitz M, Nyilas S, Schramm D, Schubert R, Tamm M, Zielen S, Rosewich M.Can Respir J. 2020 Jan 30;2020:5852827. doi: 10.1155/2020/5852827. eCollection 2020.PMID: 32076469 Free PMC article. Review.

Lung ultrasound-a new diagnostic modality in persistent tachypnea of infancy.
Urbankowska E, Urbankowski T, Drobczyński Ł, Griese M, Lange J, Brzewski M, Kulus M, Krenke K.Pediatr Pulmonol. 2020 Apr;55(4):1028-1036. doi: 10.1002/ppul.24654. Epub 2020 Jan 24.PMID: 31978279

Inhaled GM-CSF for Pulmonary Alveolar Proteinosis.
Papiris SA, Griese M, Manali ED.N Engl J Med. 2020 Jan 9;382(2):197. doi: 10.1056/NEJMc1914606.

One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD).
Cunningham S, Graham C, MacLean M, Aurora P, Ashworth M, Barbato A, Calder A, Carlens J, Clement A, Hengst M, Kammer B, Kiper N, Krenke K, Kronfeld K, Lange J, Ley-Zaporozhan J, Nicholson AG, Reu S, Wesselak T, Wetzke M, Bush A, Schwerk N, Griese M; ChILDEU study group. Thorax. 2019 Nov 20. pii: thoraxjnl-2019-213217. Supplementals.

Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Li Y, Kinting S, Höppner S, Forstner ME, Uhl O, Koletzko B, Griese M. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Dec;1864(12):158516. doi: 10.1016/j.bbalip.2019.158516.

Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

Middleton PG, Mall MA, Dřevínek P, Lands LC, McKone EF, Polineni D, Ramsey BW, Taylor-Cousar JL, Tullis E, Vermeulen F, Marigowda G, McKee CM, Moskowitz SM, Nair N, Savage J, Simard C, Tian S, Waltz D, Xuan F, Rowe SM, Jain R; VX17-445-102 Study Group. Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele. N Engl J Med. 2019 Nov 7;381(19):1809-1819. doi: 10.1056/NEJMoa1908639. Epub 2019 Oct 31. PMID: 31697873; PMCID: PMC7282384.

Lavage lipidomics signatures in children with cystic fibrosis and protracted bacterial bronchitis
Seidl E, Kiermeier H, Liebisch G, Ballmann M, Hesse S, Paul-Buck K, Ratjen F, Rietschel E, Griese M. Lavage lipidomics signatures in children with cystic fibrosis and protracted bacterial bronchitis. J Cyst Fibros. 2019 Nov;18(6):790-795. doi: 10.1016/j.jcf.2019.04.012. Epub 2019 Apr 25. PMID: 31029606.

Abandoning developmental silos: what can paediatricians and adult interstitial lung disease physicians learn from each other?
Spagnolo P, Griese M, Cocconcelli E, Bernardinello N, Bush A. Curr Opin Pulm Med. 2019 Sep;25(5):418-425.

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. ERJ Open Res. 2019 Jul 22;5(3). pii: 00066-2019. doi: 10.1183/23120541.00066-2019.

Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF).
Krauss E, Gehrken G, Drakopanagiotakis F, Tello S, Dartsch RC, Maurer O, Windhorst A, von der Beck D, Griese M, Seeger W, Guenther A. BMC Pulm Med. 2019 Jul 18;19(1):130.

Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.

Kinting S, Li Y, Forstner M, Delhommel F, Sattler M, Griese M. J Cell Mol Med. 2019 Aug;23(8):5225-5234. doi: 10.1111/jcmm.14397. Epub 2019 Jun 18.

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.

Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O. Eur Respir J. 2019 Aug 22;54(2). pii: 1801965.

Quantitative Lipidomics in Pulmonary Alveolar Proteinosis.
Griese M, Bonella F, Costabel U, de Blic J, Tran NB, Liebisch G. Am J Respir Crit Care Med. 2019 Oct 1;200(7):881-887. doi: 10.1164/rccm.201901-0086OC.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.

Pulmonary alveolar proteinosis.
Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C. Nat Rev Dis Primers. 2019 Mar 7;5(1):16.

Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Kröner C, Neumann J, Ley-Zaporozhan J, Hagl B, Meixner I, Spielberger BD, Dückers G, Belohradsky BH, Niehues T, Borte M, Rosenecker J, Kappler M, Nährig S, Reu S, Griese M, Renner ED. Allergy. 2019 Sep;74(9):1691-1702.

Patient education for children with interstitial lung diseases and their caregivers: A pilot study.
Niemitz M, Schrader M, Carlens J, Hengst M, Eismann C, Goldbeck L, Griese M, Schwerk N. Patient Educ Couns. 2019 Jan 23. pii: S0738-3991(19)30028-X. doi: 10.1016/j.pec.2019.01.016.

Early onset children's interstitial lung diseases: Discrete entities or manifestations of pulmonary dysmaturity?

Bush A, Griese M, Seidl E, Kerem E, Reu S, Nicholson AG. Paediatr Respir Rev. 2018 Oct 9. pii: S1526-0542(18)30133-7. doi: 10.1016/j.prrv.2018.09.004.

The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration.
Cunningham S, Gilbert C, Schwerk N; ChILDEU Clinical Research Collaboration Management Committee; Members of the ChILDEU Clinical Research Collaboration Management Committee: Eur Respir J. 2018 Dec 6;52(6). pii: 1801855. doi: 10.1183/13993003.01855-2018. Print 2018 Dec.

Congenital Vertical Tracheal Septum Misdiagnosed as Laryngomalacia.

Reiter K, Kramer J, Griese M, Kammer B. Am J Respir Crit Care Med. 2019 Apr 1;199(7):917-918. doi: 10.1164/rccm.201805-0891IM.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.
Seidl E, Carlens J, Reu S, Wetzke M, Ley-Zaporozhan J, Brasch F, Wesselak T, Schams A, Rauch D, Schuch L, Kappler M, Schelstraete P, Wolf M, Stehling F, Haarmann E, Borensztajn D, van de Loo M, Rubak S, Lex C, Hinrichs B, Reiter K, Schwerk N, Griese M. Respir Med. 2018 Jul;140:11-20. doi: 10.1016/j.rmed.2018.05.009. Epub 2018 May 17.

Development and validation of a health-related quality of life questionnaire for pediatric patients with interstitial lung disease.
Niemitz M, Schwerk N, Goldbeck L, Griese M. Pediatr Pulmonol. 2018 Jul;53(7):954-963. doi: 10.1002/ppul.24018. Epub 2018 Apr 23.

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Hengst M, Naehrlich L, Mahavadi P, Grosse-Onnebrink J, Terheggen-Lagro S, Skanke LH, Schuch LA, Brasch F, Guenther A, Reu S, Ley-Zaporozhan J, Griese M. Orphanet J Rare Dis. 2018 Mar 27;13(1):42

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U, Wittmann T, Höppner S, Kinting S, Liebisch G, Hegermann J, Griese M. Hum Mutat. 2018 Mar 5. doi: 10.1002/humu.23416

Chronic interstitial lung disease in children.
Griese M. Eur Respir Rev. 2018 Feb 7;27(147).

Functional rescue of misfolding ABCA3 mutations by small molecular correctors.
Kinting S, Höppner S, Schindlbeck U, Forstner ME, Harfst J, Wittmann T, Griese M. Hum Mol Genet. 2018 Jan 9. doi: 10.1093/hmg/ddy011. Supplements.

International management platform for children's interstitial lung disease (chILD-EU)
Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A; and the other chILD-EU collaborators. Thorax. 2017 Oct 22. pii: thoraxjnl-2017-210519. doi: 10.1136/thoraxjnl-2017-210519. [Epub ahead of print]

Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter.
Höppner S, Kinting S, Torrano AA, Schindlbeck U, Bräuchle C, Zarbock R, Wittman T, Griese M. Biochim Biophys Acta. 2017 Sep 5. pii: S0167-4889(17)30229-X.

Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective.
Griese M. Pediatrics. 2017 Aug;140(2). pii: e20170610.

Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis.
Bonella F, Long X, He X, Ohshimo S, Griese M, Guzman J, Costabel U. Respirology. 2017 Oct;22(7):1371-1378. doi: 10.1111/resp.13082. Epub 2017 May 31.

Management of children with interstitial lung diseases: the difficult issue of acute exacerbations.
Clement A, de Blic J, Epaud R, Galeron L, Nathan N, Hadchouel A, Barbato A, Snijders D, Kiper N, Cunningham S, Griese M, Bush A, Schwerk N; chILD-EU collaboration.
Eur Respir J. 2016 Dec;48(6):1559-1563.

Serum YKL-40 as predictor of outcome in hypersensitivity pneumonitis.
Long X, He X, Ohshimo S, Griese M, Sarria R, Guzman J, Costabel U, Bonella F.
Eur Respir J. 2017 Feb 23;49(2). pii: 1501924.

Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters J, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Orphanet J Rare Dis. 2016 Aug 31;11(1):115.

Lung disease caused by ABCA3 mutations.

Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, Zarbock R, Griese M. Thorax. 2017 Mar;72(3):213-220.

A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters JC, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Chest. 2016 Jul;150(1):251-3.

European idiopathic pulmonary fibrosis Patient Charter: a missed opportunity.
Bush A, Barbato A, Clement A, Cunningham S, Blic Jd, Gilbert C, Goldbeck L, Kiper N, Schwerk N, Griese M.
Eur Respir J. 2016 Jul;48(1):282-3.

Homooligomerization of ABCA3 and its functional significance.
Frixel S, Lotz-Havla AS, Kern S, Kaltenborn E, Wittmann T, Gersting SW, Muntau AC, Zarbock R, Griese M.

Int J Mol Med. 2016 Aug;38(2):558-66.

Serum Levels of Surfactant Proteins in Patients with Combined Pulmonary Fibrosis and Emphysema (CPFE).

Papaioannou AI, Kostikas K, Manali ED, Papadaki G, Roussou A, Spathis A, Mazioti A, Tomos I, Papanikolaou I, Loukides S, Chainis K, Karakitsos P, Griese M, Papiris S.

PLoS One. 2016 Jun 23;11(6):e0157789.

Tools to explore ABCA3 mutations causing interstitial lung disease.

Wittmann T, Schindlbeck U, Höppner S, Kinting S, Frixel S, Kröner C, Liebisch G, Hegermann J, Aslanidis C, Brasch F, Reu S, Lasch P, Zarbock R, Griese M.

Pediatr Pulmonol. 2016 Dec;51(12):1284-1294.

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.

Bonella F, Long X, Ohshimo S, Horimasu Y, Griese M, Guzman J, Kohno N, Costabel U.

Orphanet J Rare Dis. 2016 Apr 23;11:48.

Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases.

Hofmann N, Galetskiy D, Rauch D, Wittmann T, Marquardt A, Griese M, Zarbock R.

PLoS One. 2016 Mar 31;11(3):e0152594. doi: 10.1371/journal.pone.0152594. eCollection 2016.

Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3.

Wittmann T, Frixel S, Höppner S, Schindlbeck U, Schams A, Kappler MV, Hegermann J, Wrede C, Liebisch G, Vierzig A, Zacharasiewicz A, Kopp M, Poets CF, Baden W, Hartl D, Van Kaam AH, Lohse P, Aslanidis C, Zarbock R, Griese M.

Mol Med. 2016 Feb 26. doi: 10.2119/molmed.2015.00244. [Epub ahead of print]

Persistent Tachypnea of Infancy. Usual and Aberrant.
Rauch D, Wetzke M, Reu S, Wesselak W, Schams A, Hengst M, Kammer B, Ley-Zaporozhan J, Kappler M, Proesmans M, Lange J, Escribano A, Kerem E, Ahrens F, Brasch F, Schwerk N, Griese M; PTI (Persistent Tachypnea of Infancy) Study Group of the Kids Lung Register.

Am J Respir Crit Care Med. 2016 Feb 15;193(4):438-47. doi: 10.1164/rccm.201508-1655OC.

Cardiovascular risk in pulmonary alveolar proteinosis.

Manali ED, Papadaki G, Konstantonis D, Tsangaris I, Papaioannou AI, Kolilekas L, Schams A, Kagouridis K, Karakatsani A, Orfanos S, Griese M, Papiris SA.
Expert Rev Respir Med. 2016 Feb;10(2):235-40. doi: 10.1586/17476348.2016.1116389. Epub 2015 Nov 27.

Pulmonary alveolar proteinosis in a cat.
Szatmári V, Teske E, Nikkels PG, Griese M, de Jong PA, Grinwis G, Theegarten D, Veraa S, van Steenbeek FG, Drent M, Bonella F. BMC Vet Res. 2015 Dec 9;11:302.

Pushing chILD Forward: The Bright Future of Children's Interstitial Lung Diseases.
Griese M. Ann Am Thorac Soc. 2015 Oct;12(10):1428-9.

Categorizing diffuse parenchymal lung disease in children.
Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C.

Orphanet J Rare Dis. 2015 Sep 25;10(1):122. doi: 10.1186/s13023-015-0339-1.

Surfactant proteins in pediatric interstitial lung disease.

Griese M, Lorenz E, Hengst M, Schams A, Wesselak T, Rauch D, Wittmann T, Kirchberger V, Escribano A, Schaible T, Baden W, Schulze J, Krude H, Aslanidis C, Schwerk N, Kappler M, Hartl D, Lohse P, Zarbock R.

Pediatr Res. 2016 Jan;79(1-1):34-41. doi: 10.1038/pr.2015.173. Epub 2015 Sep 16.

Respiratory Bronchiolitis-Associated Interstitial Lung Disease in Childhood: New Sequela of Smoking.

Sismanlar T, Aslan AT, Turktas H, Memis L, Griese M.

Pediatrics. 2015 Oct;136(4):e1026-9. doi: 10.1542/peds.2015-1303. Epub 2015 Sep 7.

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.

Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, Thiel A, Schams A, Lange J, Krenke K, Wesselak T, Schön C, Kappler M, Blum H, Krebs S, Jung A, Kröner C, Klein C, Campo I, Luisetti M, Bonella F. BMC Pulm Med. 2015 Aug 12;15:87.

European protocols for the diagnosis and initial treatment of interstitial lung disease in children.
Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M; chILD-EU Collaboration.
Thorax. 2015 Nov;70(11):1078-84. doi: 10.1136/thoraxjnl-2015-207349. Epub 2015 Jul 1. Review. Supplements.

In vivo genome editing using nuclease-encoding mRNA corrects SP-B deficiency.

Mahiny AJ, Dewerth A, Mays LE, Alkhaled M, Mothes B, Malaeksefat E, Loretz B, Rottenberger J, Brosch DM, Reautschnig P, Surapolchai P, Zeyer F, Schams A, Carevic M, Bakele M, Griese M, Schwab M, Nürnberg B, Beer-Hammer S, Handgretinger R, Hartl D, Lehr CM, Kormann MS.
Nat Biotechnol. 2015 Jun;33(6):584-6. doi: 10.1038/nbt.3241. Epub 2015 May 18. No abstract available.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM.
Am J Hum Genet. 2015 May 7;96(5):826-31. doi: 10.1016/j.ajhg.2015.03.010. Epub 2015 Apr 23.

Pulmonary alveolar proteinosis: time to shift?
Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.

Expert Rev Respir Med. 2015 Jun;9(3):337-49. doi: 10.1586/17476348.2015.1035259. Epub 2015 Apr 12. Review.

ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.

Zarbock R, Kaltenborn E, Frixel S, Wittmann T, Liebisch G, Schmitz G, Griese M.

Biochim Biophys Acta. 2015 Jul;1851(7):987-95. doi: 10.1016/j.bbalip.2015.03.004. Epub 2015 Mar 25.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.

JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

Surfactant lipidomics in healthy children and childhood interstitial lung disease.

Griese M, Kirmeier HG, Liebisch G, Rauch D, Stückler F, Schmitz G, Zarbock R; ILD-BAL working group of the Kids-Lung-Register.
PLoS One. 2015 Feb 18;10(2):e0117985. doi: 10.1371/journal.pone.0117985. eCollection 2015.

Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M.

Pediatr Pulmonol. 2015 Feb 9. doi: 10.1002/ppul.23162. [Epub ahead of print]

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M. Eur Respir J. 2015 Feb 5. pii: ERJ-01294-2014.

Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases.
Braun S, Ferner M, Kronfeld K, Griese M.

Pediatr Pulmonol. 2014 Dec 9. doi: 10.1002/ppul.23133. [Epub ahead of print]

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N, Sibbersen A, Van Daele S, Nübling G, Lohse P, Griese M.

Orphanet J Rare Dis. 2014 Nov 26;9(1):171. [Epub ahead of print]

Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?

Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J.

Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85.

Long-term inhaled granulocyte macrophage-colony-stimulating factor in autoimmune pulmonary alveolar proteinosis: effectiveness, safety, and lowest effective dose.

Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.

Clin Drug Investig. 2014 Aug;34(8):553-64. doi: 10.1007/s40261-014-0208-z.

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M.

Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43. Supplements.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H.

J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8.

Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.
van Hoorn J, Brouwers A, Griese M, Kramer B.
BMJ Case Rep. 2014 Mar 19;2014. pii: bcr2013203053. doi: 10.1136/bcr-2013-203053.

Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E.
Klin Padiatr. 2014 Apr;226(2):53-8. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14. Review.