Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.

In conclusion, our results advocate to include SH2D1A and BTK in newly developed targeted NGS genetic testing, to contribute to providing the most appropriate medical treatment and genetic counselling.
PMID: 29709555 [PubMed - as supplied by publisher]

Source: Human Immunology - April 27, 2018 Category: Allergy & Immunology Authors: Vince N, Mouillot G, Malphettes M, Limou S, Boutboul D, Guignet A, Bertrand V, Pellet P, Gourraud PA, Debré P, Oksenhendler E, Théodorou I, Fieschi C, DEFI Study Group Tags: Hum Immunol Source Type: research