Recent advances in understanding the pathogenesis and management of reticular dysgenesis
2018
Summary
Reticular Dysgenesisis a rare
immunodeficiencywhich is clinically characterized by the combination of
Severe Combined Immunodeficiency(SCID) with agranulocytosis and
sensorineural deafness. Mutations in the gene encoding
adenylate kinase2 (
AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between
reticular dysgenesisand other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.
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