Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing

References

• Bamshad MJ , Ng SB , Bigham AW , et al. (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet, 12, 745–755. doi:10.1038/nrg3031.
   PubMed Web of Science ®Google Scholar
• Chinn IK , Shearer WT. (2015). Severe combined immunodeficiency disorders. Immunol Allergy Clin North Am, 35, 671–694. doi:10.1016/j.iac.2015.07.002.
   PubMed Web of Science ®Google Scholar
• Chiriaco M , Salfa I , Matteo GD , et al. (2016). Chronic granulomatous disease: clinical, molecular and therapeutic aspects. Pediatr Allergy Immunol, 27, 242–253. doi:10.1111/pai.2016.27.issue-3.
   PubMed Web of Science ®Google Scholar
• De Oliveira-Junior EB , Zurro NB , Prando C , et al. (2015). Clinical and genotypic spectrum of chronic granulomatous disease in 71 latin american patients: first report from the LASID registry. Pediatr Blood Cancer, 62, 2101–2107. doi:10.1002/pbc.v62.12.
   PubMed Web of Science ®Google Scholar
• Kovanen PE , Leonard WJ. (2004). Cytokines and immunodeficiency diseases: critical roles of the gammac-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways. Immunol Rev, 202, 67–83. doi:10.1111/imr.2004.202.issue-1.
   PubMed Web of Science ®Google Scholar
• Kwan A , Puck JM. (2015). History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol, 39, 194–205.
   PubMed Web of Science ®Google Scholar
• Lee PP , Chan KW , Chen TX , et al. (2011). Molecular Diagnosis of Severe Combined Immunodeficiency: identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children. J Clin Immunol, 31, 281–296.
   PubMed Web of Science ®Google Scholar
• Lee PP , Chan KW , Jiang L , et al. (2008). Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr Infect Dis J, 27, 224–230.
   PubMed Web of Science ®Google Scholar
• Lupardus PJ , Birnbaum ME , Christopher Garcia K . (2010). Molecular basis for shared cytokine recognition revealed in the structure of an unusually high affinity complex between IL-13 and IL-13Ra2. Structure, 18, 332–342.
   PubMed Web of Science ®Google Scholar
• Need AC , Shashi V , Hitomi Y , et al. (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet, 49, 353–361.
   PubMed Web of Science ®Google Scholar
• Noguchi M , Yi H , Rosenblatt HM , et al. (1993). Interleukin-2 receptor g chain mutation results in X-linked severe combined immunodeficiency in humans. Cell, 73, 147–157.
   PubMed Web of Science ®Google Scholar
• Picard C , Al-Herz W , Bousfiha A , et al. (2015). Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J Clin Immunol, 35, 696–726.
   PubMed Web of Science ®Google Scholar
• Rae J , Newburger PE , Dinauer MC , et al. (1998). X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox -component of the respiratory burst oxidase. Am J Hum Genet, 62, 1320–1331.
   PubMed Web of Science ®Google Scholar
• Roos D , De Boer M , Kuribayashi F , et al. (1996). Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood, 87, 1663–1681.
   PubMed Web of Science ®Google Scholar
• Roos D , Kuhns DB , Maddalena A , et al. (2010). Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis, 45, 246–265.
   PubMed Web of Science ®Google Scholar
• Yu Y , Wu BL , Wu J , Shen Y . (2012, Nov). Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics. Clin Chem, 58, 1507–1509.
   Google Scholar
• Zhang C , Zhang ZY , Wu JF , et al. (2013). Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. World J Pediatr, 9, 42–47.
   PubMed Web of Science ®Google Scholar