A novel mutation in LIG4 in an infant presenting with severe combined immunodeficiency with thymic medullary dysplasia
Abstract
Introduction
Methods
Lymphocyte markers and T cell proliferative responses
Serum concentration of immunoglobulins
Whole exome sequencing and variant calling
Variant prioritization
Pathology
Results
Case report
Genetic evaluation
Immune evaluation
Thymus pathology
Discussion
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