Diagnostic Criteria and Evaluation of Severe XXXX in the Neonate.

@entity1 @entity784 @entity465 @entity1200 @entity204 @entity466
UNASSIGNED: @entity466 ( @entity466 ) are a group of primary @entity465 resulting from any one of a diverse group of mutations impacting T-cell development. @entity466 is diagnosed and classified through assessment of the lymphocyte subset(s) affected and by the mechanisms responsible for the primary @entity1200 . Regardless of the genetics involved, @entity1 invariably succumb to an @entity204 without medical intervention. In the past, @entity1 were primarily identified either by previous family history, physical manifestations, or after the onset of symptoms. However, the introduction of newborn screening for @entity466 has allowed the pediatrician to identify these @entity1 at a much earlier age, greatly improving their survival. Currently, 23 states include @entity466 testing for @entity784 in their newborn screening platform. Protocols for confirmatory testing and medical intervention after a positive screen vary slightly from state-to-state. However, the standard curative treatment remains stem cell transplantation, although depending on the genetic cause of the disease, enzyme replacement and gene therapy may also be considered. [Pediatr Ann. 2015;44(7):e181-e187.].
