Immunodeficiency 30

OMIM:613796
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	IL12RB1
Reference transcript	NM_005535.1
DNA Change	c.913A>T
A.A. Change	p.Lys305Stop
Exon/Intron	exon 9
Mutation Type	substitution
Reference	Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, Samarina A, Grant AV, Janniere L, El Hafidi N, Hassani A, Nolan D, Najib J, Camcioglu Y, Hatipoglu N, Aydogmus C, Tanir G, Aytekin C, Keser M, Somer A, Aksu G, Kutukculer N, Mansouri D, Mahdaviani A, Mamishi S, Alcais A, Abel L, Casanova JL.IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011 Apr 13;6(4)

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