TREC Screening for WHIM Syndrome.
J Clin Immunol
; 41(3): 621-628, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33415666
ABSTRACT
PURPOSE:
T cell receptor excision circle (TREC) quantification is a recent addition to newborn screening (NBS) programs and is intended to identify infants with severe combined immunodeficiencies (SCID). However, other primary immunodeficiency diseases (PID) have also been identified as the result of TREC screening. We recently reported a newborn with a low TREC level on day 1 of life who was diagnosed with WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, a non-SCID primary immunodeficiency caused by mutations in the chemokine receptor CXCR4.METHODS:
We have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementation of NBS for SCID.RESULTS:
We identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of the six WHIM infants had low TREC levels on NBS. All six patients were lymphopenic but only one infant had a T cell count below 1,500 cells/µL. The most common clinical manifestation was viral bronchiolitis requiring hospitalization. One infant died of complications related to Tetralogy of Fallot, a known WHIM phenotype.CONCLUSION:
The results suggest that WHIM syndrome should be considered in the differential diagnosis of newborns with low NBS TREC levels. TRIAL REGISTRATION Not applicable.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Verrugas
/
Receptores de Antígenos de Linfócitos T
/
Triagem Neonatal
/
Doenças da Imunodeficiência Primária
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos