TREC Screening for WHIM Syndrome
| Autor: | George S. Edwardson, James A. Connelly, Philip M. Murphy, Martin Oman Evans, Soma Jyonouchi, David H. McDermott, David J. Morris, Amer Khojah, Maureen M. Petersen, Shamik Majumdar, Yasmin W. Khan, Jolan E. Walter |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
Receptors CXCR4 Pediatrics medicine.medical_specialty Primary Immunodeficiency Diseases DNA Mutational Analysis Immunology Receptors Antigen T-Cell CXCR4 Article Diagnosis Differential Hypogammaglobulinemia Combined immunodeficiencies Neonatal Screening medicine Humans Immunology and Allergy Myelokathexis Newborn screening T-cell receptor excision circles business.industry Infant Newborn medicine.disease Phenotype Mutation Primary immunodeficiency Female Severe Combined Immunodeficiency Disease Susceptibility Warts business Biomarkers WHIM syndrome |
| Zdroj: | J Clin Immunol |
| Popis: | 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. No infant demonstrated a neonatal 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. |
| Databáze: | OpenAIRE |
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