Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

Eitemau Tebyg

• Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
  gan: Eletto, Davide, et al.
  Cyhoeddwyd: (2016)
• LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
  gan: Burns, Siobhan O., et al.
  Cyhoeddwyd: (2012)
• Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs
  gan: Kang, Jung-Taek, et al.
  Cyhoeddwyd: (2016)
• A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
  gan: Plagnol, Vincent, et al.
  Cyhoeddwyd: (2012)
• Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1
  gan: Record, Julien, et al.
  Cyhoeddwyd: (2015)