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Journal of Medical Case Reports

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Open Access 01-12-2017 | Case report

A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report

Authors: Adel S. Al-Haidary, Wadha Alotaibi, Sami A. Alhaider, Suhail Al-Saleh

Published in: Journal of Medical Case Reports | Issue 1/2017

Abstract

Background

The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene.

Case presentation

A 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage.

Conclusions

This case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.

Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003;349(26):2527–39.CrossRefPubMed

de Blic J. Pulmonary alveolar proteinosis in children. Paediatr Respir Rev. 2004;5(4):316–22.CrossRefPubMed

Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B. Pulmonary alveolar proteinosis. Eur Respir Rev. 2011;20(120):98–107.CrossRefPubMed

Campo I, Kadija Z, Mariani F, Paracchini E, Rodi G, Mojoli F, Braschi A, Luisetti M. Pulmonary alveolar proteinosis: diagnostic and therapeutic challenges. Multidiscip Respir Med. 2012;7(1):1.CrossRef

Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. Orphanet J Rare Dis. 2014;9(1):1.CrossRef

Martinez-Moczygemba M, Doan ML, Elidemir O, Fan LL, Cheung SW, Lei JT, Moore JP, Tavana G, Lewis LR, Zhu Y, Muzny DM. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008;205(12):2711–6.CrossRefPubMedPubMedCentral

Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008;205(12):2703–10.CrossRefPubMedPubMedCentral

Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012;129(6):1588–93.CrossRefPubMed

Suzuki T, Maranda B, Sakagami T, Catellier P, Couture CY, Carey BC, Chalk C, Trapnell BC. Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. Eur Respir J. 2011;37(1):201–4.CrossRefPubMed

10.

Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer B, Stephan MJ, Uchida DA, Williames LD. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest J. 2013;144(3):794–804.CrossRef

11.

Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, Wert SE, Rubin BK, Kevill K, Chalk C, Whitsett JA. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010;182(10):1292–304.CrossRefPubMedPubMedCentral

12.

Rice A, Tran‐Dang MA, Bush A, Nicholson AG. Diffuse lung disease in infancy and childhood: expanding the chILD classification. Histopathology. 2013;63(6):743–55.CrossRefPubMed

13.

Helena Mangs A, Morris BJ. The human pseudoautosomal region (PAR): origin, function and future. Curr Genomics. 2007;8(2):129–36.CrossRefPubMedPubMedCentral

14.

Uchida K, Nakata K, Suzuki T, Luisetti M, Watanabe M, Koch DE, Stevens CA, Beck DC, Denson LA, Carey BC, Keicho N. Granulocyte/macrophage–colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. Blood. 2009;113(11):2547–56.CrossRefPubMedPubMedCentral

15.

Suzuki T, Arumugam P, Sakagami T, Lachmann N, Chalk C, Sallese A, Abe S, Trapnell C, Carey B, Moritz T, Malik P. Pulmonary macrophage transplantation therapy. Nature. 2014;514(7523):450–4.CrossRefPubMedPubMedCentral

16.

Lachmann N, Happle C, Ackermann M, Lüttge D, Wetzke M, Merkert S, Hetzel M, Kensah G, Jara-Avaca M, Mucci A, Skuljec J. Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis. Am J Respir Crit Care Med. 2014;189(2):167–82.PubMed

17.

Santiago-Burruchaga M, Zalacain-Jorge R, Alvarez-Martinez J, Arguinzoniz-Marzana JM, Pocheville-Guruzeta I, Vazquez-Ronco MA, Gozalo-García A, Vazquez-Cordero C. Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia? Respir Med. 2013;107(1):134–8.CrossRefPubMed

18.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet. 2013;132(10):1077–130.CrossRefPubMedPubMedCentral

Title: A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
Authors: Adel S. Al-Haidary
Wadha Alotaibi
Sami A. Alhaider
Suhail Al-Saleh
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2017
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-017-1285-4

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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