Abnormal Newborn Screen in a WHIM Syndrome Infant
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To the Editor,
T cell receptor excision circle (TREC) quantification was added to newborn screening in 2008 to identify newborns with severe combined immunodeficiency (SCID). However, the vast majority of infants identified by TREC screening do not have SCID on confirmatory testing . Because of the novelty of the test, there is a paucity of information regarding long-term prognosis and differential diagnosis of non-SCID infants with low TREC levels. Here we present a case of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome that presented on newborn screen with low TREC levels.
Absolute lymphocyte count
Absolute neutrophil count
Cycle threshold number
C-X-C chemokine receptor type 4
C-X-C motif chemokine 12
Dried blood spots
- RNAse P
Severe combined immunodeficiency
T cell receptor excision circles
White blood count
Warts, hypogammaglobulinemia, infections, myelokathexis
I would like to acknowledge Adam Coleman, PhD at the Maryland Department of Health Laboratories Administration for his invaluable contribution to this work; his contribution included sample processing and data collection.
ME, MP, and DM provided the medical care for the patient; DM and PM performed the gene sequencing, and ME, MP, PM, and DM wrote the manuscript. All authors read and approved the final manuscript.
This work was supported in part by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA.
National Institute of Allergy and Infectious Diseases, National Institutes of Health funded CXCR4 gene sequencing.
Compliance with Ethical Standards
Informed consent was obtained from the parents.
Conflict of Interest
The authors declare that they have no conflicts of interest.
The views expressed in this manuscript are those of the authors and do not reflect the official policy of the Department of Army/Navy/Air Force, Department of Defense, or U.S. Government.
- 4.Heusinkveld L, Majumdar S, Gao J, McDermott D, Murphy P. WHIM syndrome: from pathogenesis towards personalized medicine and cure. J Clin Immunol. 2019.Google Scholar