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Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution

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Fig. 1

Abbreviations

DGS:

DiGeorge Syndrome

22qDS:

22q11.2 deletion syndrome

SCN:

Severe congenital neutropenia

HSCT:

Hematopoietic stem cell transplantation

WES:

Whole exome sequencing

SDS:

Shwachman-Diamond syndrome

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Acknowledgement

This work is supported by Atlanta Pediatric Scholars Program (APSP) grant K12HD072245 (NICHD Child Health Research Career Development Award Program, NIH) to SC.

Funding

This work is supported by Atlanta Pediatric Scholars Program (APSP) grant K12HD072245 (NICHD Child Health Research Career Development Award Program, NIH) to SC.

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Authors and Affiliations

  1. Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Emory University School of Medicine, 2015 Uppergate Drive, ECC Room 418, Atlanta, GA, 30030, USA

    Marcus A. Carden & Shanmuganathan Chandrakasan

  2. Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA

    James A. Connelly

  3. Department of Pathology, Children’s Healthcare of Atlanta, Atlanta, GA, USA

    Elizabeth P. Weinzierl

  4. Department of Allergy and Immunology, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA

    Lisa J. Kobrynski

Authors
  1. Marcus A. Carden
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  2. James A. Connelly
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  3. Elizabeth P. Weinzierl
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  4. Lisa J. Kobrynski
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  5. Shanmuganathan Chandrakasan
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Corresponding author

Correspondence to Shanmuganathan Chandrakasan.

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The authors declare that they have no conflict of interest.

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Carden, M.A., Connelly, J.A., Weinzierl, E.P. et al. Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution. J Clin Immunol 38, 546–549 (2018). https://doi.org/10.1007/s10875-018-0518-7

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  • DOI: https://doi.org/10.1007/s10875-018-0518-7

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