Dave Peterson
University of Wisconsin-Madison · Plant and Agroecosystem Sciences
Active 1961–2024
Research topics
- Medicine
- Microbiology
- Internal medicine
- Intensive care medicine
- Biology
Selected publications
Severe congenital neutropenia, <i>SRP54</i> pathogenicity, and a framework for surveillance
American Journal of Medical Genetics Part A · 2023 · 4 citations
- Medicine
- Intensive care medicine
- Microbiology
Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as ELANE, HAX1, and SBDS. SRP54 pathogenic variants are associated with SCN and Shwachman-Diamond-like syndrome. Thirty-eight patients with SRP54-related SCN are reported in the literature. We present an infant with SCN, without classic Shwachman-Diamond syndrome features, who presented with recurrent bacterial infections and an SRP54 (c.349_351del) pathogenic variant. Despite ongoing granulocyte colony-stimulating factor therapy, this patient has no evidence of malignant transformation. Here we establish a framework for the future development of universal guidelines to care for this patient population.
Frequent coauthors
- 45 shared
Asaf A. Qureshi
University of Missouri–Kansas City
- 34 shared
A. Gapor
Malaysian Palm Oil Board
- 32 shared
Y. H. Chong
- 32 shared
N Qureshi
- 32 shared
A. S. H. Ong
- 26 shared
Ez A. Hassan
United States Air Force Research Laboratory
- 24 shared
Graham V. Candler
University of Minnesota
- 24 shared
Cheryld L. Emmons
Alfred University
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