Clinical manifestations associated with novel mutations in the coiled-coil domain of STAT1
Abstract
Introduction
Methods
Flow cytometry
Serum concentration of immunoglobulin and specific antibodies
T- and B-cell proliferative response
Sequencing analysis
Results
Patients
Case 1, Family 1
Case 2, Family 2
Case 3, Family 2
Case 4, Family 3
Case 5, Family 3
Cases 6–9, Family 4
Genetic analysis
Brain vascular anomalies in STAT1
Discussion
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