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TREC Screening for WHIM Syndrome.

Martin Oman Evans1, Maureen M Petersen2, Amer Khojah3

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Journal of Clinical Immunology
|January 8, 2021
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Summary

T cell receptor (TREC) screening can identify severe combined immunodeficiencies (SCID). However, WHIM syndrome, a non-SCID primary immunodeficiency, may also present with low TREC levels in newborns, warranting consideration in differential diagnoses.

Keywords:
CXCR4Tetralogy of Fallotneutropenianewborn screen

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Area of Science:

  • Immunology
  • Genetics
  • Neonatal Screening

Background:

  • T cell receptor (TREC) quantification is utilized in newborn screening (NBS) to detect severe combined immunodeficiencies (SCID).
  • Primary immunodeficiency diseases (PID), beyond SCID, can also be identified through TREC screening.
  • WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, a non-SCID PID caused by CXCR4 mutations, was previously reported in a newborn with low TREC levels.

Purpose of the Study:

  • To investigate the occurrence of low TREC levels in infants diagnosed with WHIM syndrome.
  • To determine the utility of TREC quantification in identifying WHIM syndrome during NBS.

Main Methods:

  • Retrospective review of birth and clinical histories of infants with WHIM syndrome born after NBS for SCID implementation.
  • Analysis of TREC quantification data from newborn screening for identified WHIM infants.

Main Results:

  • Six infants with confirmed WHIM syndrome were identified with NBS TREC data.
  • Three of the six WHIM infants exhibited low TREC levels on NBS.
  • All six patients were lymphopenic; viral bronchiolitis was the most common manifestation. One infant had a known WHIM phenotype complication (Tetralogy of Fallot).

Conclusions:

  • WHIM syndrome should be considered in the differential diagnosis for newborns presenting with low TREC levels on NBS.
  • TREC screening may aid in the early identification of non-SCID PIDs like WHIM syndrome.