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A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome

Scientific Letter
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Notes

Acknowledgments

The authors would like to thank Green Cross Genome Co. (Yongin-si, Gyeonggi-do, Korea) for its assistance with the genetic analysis images.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

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    Picard C, Al-Herz W, Bousfiha A, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency 2015. J Clin Immunol. 2015;35:696–726.CrossRefPubMedPubMedCentralGoogle Scholar
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    Gallagher J, Adams J, Hintermeyer M, et al. X-linked hyper IgM syndrome presenting as pulmonary alveolar proteinosis. J Clin Immunol. 2016;36:564–70.CrossRefPubMedGoogle Scholar
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    Pedroza LA, Guerrero N, Stray-Pedersen A, et al. First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with severe cutaneous histoplasmosis. Front Pediatr. 2017;5:17.Google Scholar
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    Chou J, Ohsumi TK, Geha RS. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012;12:623–8.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  1. 1.Department of PediatricsPusan National University Yangsan HospitalYangsan-siSouth Korea

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