Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Immunodeficiency, common variable, 3

OMIM:613493
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolCD19
Reference transcriptNM_001770.5
DNA Changec.1653_167119del28pbins23pb
A.A. Changep.G551GfsX25
Exon/Intronexon 14
Mutation Typeindel
ReferenceVince N, Boutboul D, Mouillot G, Just N, Peralta M, Casanova JL, Conley ME, Bories JC, Oksenhendler E, Malphettes M, Fieschi C; DEFI Study Group.Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency.
J Allergy Clin Immunol. 2011 Feb;127(2):538-541.
Gene SymbolCD19
Reference transcriptNM_001770.5
DNA Changec.156G>C
A.A. Changep.W52C
Exon/Intronexon 2
Mutation Typesubstitution
Referencevan Zelm MC, Smet J, van der Burg M, Ferster A, Le PQ, Schanden? L, van Dongen JJ, Mascart F.Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation.
Hum Mol Genet. 2011 May 1;20(9):1854-63.