Literature DB >> 33741030

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).

Brigitte W M Willemse1, Saskia N van der Crabben2,3, Wilhelmina S Kerstjens-Frederikse4, Wim Timens5, Joris M van Montfrans6, Caroline A Lindemans6,7, Jaap Jan Boelens6,8, Marije P Hennus9, Gijs van Haaften10.   

Abstract

We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

Entities:  

Keywords:  Hematopoietic stem-cell transplantation; Immunodeficiency; NSMCE3 gene; Pediatric acute respiratory distress syndrome (PARDS); Severe respiratory failure

Mesh：

Year:  2021        PMID： 33741030      PMCID： PMC7980653          DOI： 10.1186/s13023-021-01770-z

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN： 1750-1172            Impact factor:   4.123


  13 in total

1.  A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Authors:  Kornelia Neveling; Ilse Feenstra; Christian Gilissen; Lies H Hoefsloot; Erik-Jan Kamsteeg; Arjen R Mensenkamp; Richard J T Rodenburg; Helger G Yntema; Liesbeth Spruijt; Sascha Vermeer; Tuula Rinne; Koen L van Gassen; Danielle Bodmer; Dorien Lugtenberg; Rick de Reuver; Wendy Buijsman; Ronny C Derks; Nienke Wieskamp; Bert van den Heuvel; Marjolijn J L Ligtenberg; Hannie Kremer; David A Koolen; Bart P C van de Warrenburg; Frans P M Cremers; Carlo L M Marcelis; Jan A M Smeitink; Saskia B Wortmann; Wendy A G van Zelst-Stams; Joris A Veltman; Han G Brunner; Hans Scheffer; Marcel R Nelen
Journal:  Hum Mutat       Date:  2013-10-18       Impact factor: 4.878

2.  Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme.

Authors:  Leland L Fan; Megan K Dishop; Csaba Galambos; Frederic B Askin; Frances V White; Claire Langston; Deborah R Liptzin; Miranda E Kroehl; Gail H Deutsch; Lisa R Young; Geoffrey Kurland; James Hagood; Sharon Dell; Bruce C Trapnell; Robin R Deterding
Journal:  Ann Am Thorac Soc       Date:  2015-10

Review 3.  Nijmegen breakage syndrome.

Authors:  I van der Burgt; K H Chrzanowska; D Smeets; C Weemaes
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

Review 4.  ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Authors:  Jayesh M Bhatt; Andrew Bush; Marjo van Gerven; Andreea Nissenkorn; Michael Renke; Lian Yarlett; Malcolm Taylor; Thomy Tonia; Adilia Warris; Stefan Zielen; Shairbanu Zinna; Peter J F M Merkus
Journal:  Eur Respir Rev       Date:  2015-12

Review 5.  An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

Authors:  Geoffrey Kurland; Robin R Deterding; James S Hagood; Lisa R Young; Alan S Brody; Robert G Castile; Sharon Dell; Leland L Fan; Aaron Hamvas; Bettina C Hilman; Claire Langston; Lawrence M Nogee; Gregory J Redding
Journal:  Am J Respir Crit Care Med       Date:  2013-08-01       Impact factor: 21.405

6.  Interstitial lung disease in patients with ataxia-telangiectasia.

Authors:  Scott A Schroeder; Michael Swift; Claudio Sandoval; Claire Langston
Journal:  Pediatr Pulmonol       Date:  2005-06

7.  Diffuse lung disease in young children: application of a novel classification scheme.

Authors:  Gail H Deutsch; Lisa R Young; Robin R Deterding; Leland L Fan; Sharon D Dell; Judy A Bean; Alan S Brody; Lawrence M Nogee; Bruce C Trapnell; Claire Langston; Eric A Albright; Frederic B Askin; Peter Baker; Pauline M Chou; Carlyne M Cool; Susan C Coventry; Ernest Cutz; Mary M Davis; Megan K Dishop; Csaba Galambos; Kathleen Patterson; William D Travis; Susan E Wert; Frances V White
Journal:  Am J Respir Crit Care Med       Date:  2007-09-20       Impact factor: 21.405

Review 8.  SMC5/6: Multifunctional Player in Replication.

Authors:  Jan J Palecek
Journal:  Genes (Basel)       Date:  2018-12-22       Impact factor: 4.096

9.  Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

Authors:  Felicity Payne; Rita Colnaghi; Nuno Rocha; Asha Seth; Julie Harris; Gillian Carpenter; William E Bottomley; Eleanor Wheeler; Stephen Wong; Vladimir Saudek; David Savage; Stephen O'Rahilly; Jean-Claude Carel; Inês Barroso; Mark O'Driscoll; Robert Semple
Journal:  J Clin Invest       Date:  2014-08-08       Impact factor: 14.808

10.  Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Authors:  Saskia N van der Crabben; Marije P Hennus; Grant A McGregor; Deborah I Ritter; Sandesh C S Nagamani; Owen S Wells; Magdalena Harakalova; Ivan K Chinn; Aaron Alt; Lucie Vondrova; Ron Hochstenbach; Joris M van Montfrans; Suzanne W Terheggen-Lagro; Stef van Lieshout; Markus J van Roosmalen; Ivo Renkens; Karen Duran; Isaac J Nijman; Wigard P Kloosterman; Eric Hennekam; Jordan S Orange; Peter M van Hasselt; David A Wheeler; Jan J Palecek; Alan R Lehmann; Antony W Oliver; Laurence H Pearl; Sharon E Plon; Johanne M Murray; Gijs van Haaften
Journal:  J Clin Invest       Date:  2016-07-18       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.