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Abnormal Newborn Screen in a WHIM Syndrome Infant

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Abbreviations

ALC:

Absolute lymphocyte count

ANC:

Absolute neutrophil count

Ct:

Cycle threshold number

CXCR4:

C-X-C chemokine receptor type 4

CXCL12:

C-X-C motif chemokine 12

DBS:

Dried blood spots

NBS:

Newborn screen

RNAse P:

Ribonuclease P

SCID:

Severe combined immunodeficiency

TRECs:

T cell receptor excision circles

WBC:

White blood count

WGS:

Whole-genome sequencing

WHIM:

Warts, hypogammaglobulinemia, infections, myelokathexis

References

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Acknowledgments

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.

Funding

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.

Author information

Authors and Affiliations

  1. Walter Reed National Military Medical Center, 13101 Conover Dr., Silver Spring, Bethesda, MD, 20902, USA

    Martin O. Evans II & Maureen M. Petersen

  2. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    David H. McDermott & Philip M. Murphy

Authors
  1. Martin O. Evans II
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  2. David H. McDermott
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  3. Philip M. Murphy
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  4. Maureen M. Petersen
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Contributions

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.

Corresponding author

Correspondence to Martin O. Evans II.

Ethics declarations

Informed consent was obtained from the parents.

Conflict of Interest

The authors declare that they have no conflicts of interest.

Disclaimer

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.

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Evans, M.O., McDermott, D.H., Murphy, P.M. et al. Abnormal Newborn Screen in a WHIM Syndrome Infant. J Clin Immunol 39, 839–841 (2019). https://doi.org/10.1007/s10875-019-00686-5

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  • DOI: https://doi.org/10.1007/s10875-019-00686-5

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