Identifying Novel Inborn Errors of the Immune System Primary Immunodeficiencies with Defective Class Switch and Autoimmunity /
In her study Elisabeth Salzer describes three novel monogenic diseases. For CD27 deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to iden...
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Language: | English |
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Wiesbaden :
Springer Fachmedien Wiesbaden : Imprint: Springer,
2017.
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Edition: | 1st ed. 2017. |
Series: | BestMedDiss,
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Online Access: | https://doi.org/10.1007/978-3-658-16796-7 |