Fabian Hauck, Britta Blumenthal, Sebastian Fuchs, Christelle Lenoir, Emmanuel Martin, Carsten Speckmann, Thomas Vraetz, Wilma Mannhardt-Laakmann, Nathalie Lambert, Marine Gil, Stephan Borte, Marie Audrain, Klaus Schwarz, Annick Lim, Wolfgang W Schamel, Alain Fischer, Stephan Ehl, Anne Rensing-Ehl, Capucine Picard, Sylvain Latour
Autosomal recessive human ZAP70 deficiency is a rare cause of combined immunodeficiency (CID) characterized by defective CD4 T cells and profound CD8 T cell lymphopenia. Herein, we report two novel patients that extend the molecular genetics, the clinical and functional phenotypes associated with the ZAP70 deficiency. The patients presented as infant-onset CID with severe infections caused by varicella zoster virus and live vaccines. Retrospective TCR excision circle newborn screening was normal in both patients...
December 2015: Clinical Immunology: the Official Journal of the Clinical Immunology Society