Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary immunodeficiency disorders (PIDs) are genetic diseases that lead to increased susceptibility to infection. Hundreds of PIDs have now been described, but a select subset commonly presents in the neonatal period. Neonates, especially premature newborns, have relative immune immaturity that makes it challenging to differentiate PIDs from intrinsic immaturity. Nonetheless, early identification and appropriate management of PIDs are critical, and the neonatal clinician should be familiar with a range of PIDs and their presentations. The neonatal clinician should also be aware of the importance of consulting with an immunologist when a PID is suspected. The role of newborn screening for severe combined immunodeficiency, as well as the initial steps of laboratory evaluation for a PID should be familiar to those caring for neonates. Finally, it is important for providers to be familiar with the initial management steps that can be taken to reduce the risk of infection in affected patients.
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PMID:Primary Immunodeficiency in the NICU. 3126 Oct 87