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...
| Κύριος συγγραφέας: | |
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| Συγγραφή απο Οργανισμό/Αρχή: | |
| Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
| Γλώσσα: | English |
| Έκδοση: |
Wiesbaden :
Springer Fachmedien Wiesbaden : Imprint: Springer,
2017.
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| Σειρά: | BestMedDiss
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| Θέματα: | |
| Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- CD27 Deficiency-Description of a Large Patient Cohort
- PRKCD Deficiency with Lupus-Like Autoimmunity
- IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease.
