Etiology
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Goutaki M,
Lam YT,
Alexandru M,
Anagiotos A,
Armengot M,
Boon M,
Burgess A,
Caversaccio N,
Crowley S,
Dheyauldeen SAD,
Emiralioglu N,
Erdem E,
van Gogh C,
Gunaydin O,
Haarman EG,
Harris A,
Hayn I,
Ismail-Koch H,
Karadag B,
Kempeneers C,
Kim S,
Lorent N,
Ozcelik U,
Pioch C,
Poirrier AML,
Reula A,
Roehmel J,
Yiallouros P,
Yumusakhuylu AC,
Papon JF
JAMA Otolaryngol Head Neck Surg
2023 Jul 1;149(7):587-596.
doi: 10.1001/jamaoto.2023.0841.
PMID: 37166807Free PMC Article
Barber AT,
Shapiro AJ,
Davis SD,
Ferkol TW,
Atkinson JJ,
Sagel SD,
Dell SD,
Olivier KN,
Milla CE,
Rosenfeld M,
Li L,
Lin FC,
Sullivan KM,
Capps NA,
Zariwala MA,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Mar;20(3):397-405.
doi: 10.1513/AnnalsATS.202206-487OC.
PMID: 36342963Free PMC Article
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Zariwala M,
O'Neal WK,
Noone PG,
Leigh MW,
Knowles MR,
Ostrowski LE
Am J Respir Cell Mol Biol
2004 Apr;30(4):428-34.
Epub 2003 Nov 20
doi: 10.1165/rcmb.2003-0338RC.
PMID: 14630615
Diagnosis
Takeuchi K,
Abo M,
Date H,
Gotoh S,
Kamijo A,
Kaneko T,
Keicho N,
Kodama S,
Koinuma G,
Kondo M,
Masuda S,
Mori E,
Morimoto K,
Nagao M,
Nakano A,
Nakatani K,
Nishida N,
Nishikido T,
Ohara H,
Okinaka Y,
Sakaida H,
Shiraishi K,
Suzaki I,
Tojima I,
Tsunemi Y,
Kainuma K,
Ota N,
Takeno S,
Fujieda S
Auris Nasus Larynx
2024 Jun;51(3):553-568.
Epub 2024 Mar 27
doi: 10.1016/j.anl.2024.02.001.
PMID: 38537559
Goutaki M,
Lam YT,
Alexandru M,
Anagiotos A,
Armengot M,
Boon M,
Burgess A,
Caversaccio N,
Crowley S,
Dheyauldeen SAD,
Emiralioglu N,
Erdem E,
van Gogh C,
Gunaydin O,
Haarman EG,
Harris A,
Hayn I,
Ismail-Koch H,
Karadag B,
Kempeneers C,
Kim S,
Lorent N,
Ozcelik U,
Pioch C,
Poirrier AML,
Reula A,
Roehmel J,
Yiallouros P,
Yumusakhuylu AC,
Papon JF
JAMA Otolaryngol Head Neck Surg
2023 Jul 1;149(7):587-596.
doi: 10.1001/jamaoto.2023.0841.
PMID: 37166807Free PMC Article
Shah A,
Laguna TA
Pediatr Ann
2022 Feb;51(2):e82-e85.
Epub 2022 Feb 1
doi: 10.3928/19382359-20220119-01.
PMID: 35156887
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Kido T,
Yatera K,
Yamasaki K,
Nagata S,
Choujin Y,
Yamaga C,
Hara K,
Ishimoto H,
Hisaoka M,
Mukae H
Intern Med
2012;51(9):1093-8.
Epub 2012 Apr 29
doi: 10.2169/internalmedicine.51.6617.
PMID: 22576394
Therapy
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Abitbul R,
Amirav I,
Blau H,
Alkrinawi S,
Aviram M,
Shoseyov D,
Bentur L,
Avital A,
Springer C,
Lavie M,
Prais D,
Dabbah H,
Elias N,
Elizur A,
Goldberg S,
Hevroni A,
Kerem E,
Luder A,
Roth Y,
Cohen-Cymberknoh M,
Ben Ami M,
Mandelberg A,
Livnat G,
Picard E,
Rivlin J,
Rotschild M,
Soferman R,
Loges NT,
Olbrich H,
Werner C,
Wolter A,
Herting M,
Wallmeier J,
Raidt J,
Omran H,
Mussaffi H
Respir Med
2016 Oct;119:41-47.
Epub 2016 Aug 23
doi: 10.1016/j.rmed.2016.08.015.
PMID: 27692146
Andersen TN,
Alanin MC,
von Buchwald C,
Nielsen LH
Int J Pediatr Otorhinolaryngol
2016 Oct;89:164-8.
Epub 2016 Aug 18
doi: 10.1016/j.ijporl.2016.08.011.
PMID: 27619050
Shapiro AJ,
Zariwala MA,
Ferkol T,
Davis SD,
Sagel SD,
Dell SD,
Rosenfeld M,
Olivier KN,
Milla C,
Daniel SJ,
Kimple AJ,
Manion M,
Knowles MR,
Leigh MW;
Genetic Disorders of Mucociliary Clearance Consortium
Pediatr Pulmonol
2016 Feb;51(2):115-32.
Epub 2015 Sep 29
doi: 10.1002/ppul.23304.
PMID: 26418604Free PMC Article
Kido T,
Yatera K,
Yamasaki K,
Nagata S,
Choujin Y,
Yamaga C,
Hara K,
Ishimoto H,
Hisaoka M,
Mukae H
Intern Med
2012;51(9):1093-8.
Epub 2012 Apr 29
doi: 10.2169/internalmedicine.51.6617.
PMID: 22576394
Prognosis
Hijikata M,
Morimoto K,
Ito M,
Wakabayashi K,
Miyabayashi A,
Yamada H,
Keicho N
Clin Genet
2025 Feb;107(2):219-223.
Epub 2024 Oct 27
doi: 10.1111/cge.14640.
PMID: 39462806
Sagel SD,
Kupfer O,
Wagner BD,
Davis SD,
Dell SD,
Ferkol TW,
Hoppe JE,
Rosenfeld M,
Sullivan KM,
Tiddens HAWM,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Jan;20(1):67-74.
doi: 10.1513/AnnalsATS.202204-314OC.
PMID: 35984413Free PMC Article
Boaretto F,
Snijders D,
Salvoro C,
Spalletta A,
Mostacciuolo ML,
Collura M,
Cazzato S,
Girosi D,
Silvestri M,
Rossi GA,
Barbato A,
Vazza G
J Mol Diagn
2016 Nov;18(6):912-922.
Epub 2016 Sep 13
doi: 10.1016/j.jmoldx.2016.07.002.
PMID: 27637300
Kido T,
Yatera K,
Yamasaki K,
Nagata S,
Choujin Y,
Yamaga C,
Hara K,
Ishimoto H,
Hisaoka M,
Mukae H
Intern Med
2012;51(9):1093-8.
Epub 2012 Apr 29
doi: 10.2169/internalmedicine.51.6617.
PMID: 22576394
Zariwala M,
O'Neal WK,
Noone PG,
Leigh MW,
Knowles MR,
Ostrowski LE
Am J Respir Cell Mol Biol
2004 Apr;30(4):428-34.
Epub 2003 Nov 20
doi: 10.1165/rcmb.2003-0338RC.
PMID: 14630615
Clinical prediction guides
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Sagel SD,
Kupfer O,
Wagner BD,
Davis SD,
Dell SD,
Ferkol TW,
Hoppe JE,
Rosenfeld M,
Sullivan KM,
Tiddens HAWM,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Jan;20(1):67-74.
doi: 10.1513/AnnalsATS.202204-314OC.
PMID: 35984413Free PMC Article
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Kido T,
Yatera K,
Yamasaki K,
Nagata S,
Choujin Y,
Yamaga C,
Hara K,
Ishimoto H,
Hisaoka M,
Mukae H
Intern Med
2012;51(9):1093-8.
Epub 2012 Apr 29
doi: 10.2169/internalmedicine.51.6617.
PMID: 22576394
Zariwala M,
O'Neal WK,
Noone PG,
Leigh MW,
Knowles MR,
Ostrowski LE
Am J Respir Cell Mol Biol
2004 Apr;30(4):428-34.
Epub 2003 Nov 20
doi: 10.1165/rcmb.2003-0338RC.
PMID: 14630615