Whole exome sequencing of trio with primary immunodeficiency (IL2RB)

A novel homozygous mutation in human IL2RB results in decreased IL-2RB protein expression and dysregulated IL-2/15 signaling. This hypomorphic mutation leads to decreased regulatory T cell frequency and abnormal NK cell compartment, with clinical manifestations of autoimmunity and susceptibility to CMV.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001004963	Whole exome paired-end sequencing data was performed on a trio (patient + parents) who has primary immunodeficiency to identify the genetic cause of the immunodeficiency. Analysis revealed a novel homozygous mutation in IL2RB.	unspecified	3

Publications	Citations
A novel human <i>IL2RB</i> mutation results in T and NK cell-driven immune dysregulation. Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY. J Exp Med 216: 2019 1255-1267	42

Publications

Citations

A novel human <i>IL2RB</i> mutation results in T and NK cell-driven immune dysregulation.
Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY. J Exp Med 216: 2019 1255-1267