B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

Author:

Salzer Elisabeth1,Santos-Valente Elisangela1,Klaver Stefanie12,Ban Sol A.1,Emminger Wolfgang3,Prengemann Nina Kathrin1,Garncarz Wojciech1,Müllauer Leonhard4,Kain Renate4,Boztug Heidrun5,Heitger Andreas5,Arbeiter Klaus3,Eitelberger Franz6,Seidel Markus G.5,Holter Wolfgang5,Pollak Arnold3,Pickl Winfried F.7,Förster-Waldl Elisabeth3,Boztug Kaan13

Affiliation:

1. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria;

2. Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil;

3. Department of Pediatrics and Adolescent Medicine,

4. Clinical Institute of Pathology, and

5. Department of Pediatrics, St. Anna Kinderspital and Children’s Cancer Research Institute, Medical University of Vienna, Vienna, Austria;

6. Department of Pediatrics and Adolescent Medicine, Klinikum Wels-Grieskirchen Wels, Austria; and

7. Christian Doppler Laboratory for Immunomodulation and Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria

Abstract

Key Points PRKCD deficiency causes a novel primary immunodeficiency with B-cell deficiency and severe autoimmunity. Protein kinase C δ may represent a key factor controlling immune homeostasis and autoimmunity.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference23 articles.

1. Primary B cell immunodeficiencies: comparisons and contrasts.;Conley;Annu Rev Immunol,2009

2. “A rose is a rose is a rose,” but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?;Yong;Adv Immunol,2011

3. New frontiers of primary antibody deficiencies.;van der Burg;Cell Mol Life Sci,2012

4. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.;Al-Herz;Front Immunol,2011

5. Combined immunodeficiency with life-threatening EBV-associatedlymphoproliferative disorder in patients lacking functional CD27 [published online ahead of print July 16, 2012].;Salzer;Haematologica

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