Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing
Pediatr Blood Cancer
.
2023 Jan;70(1):e29871.
doi: 10.1002/pbc.29871.
Epub 2022 Jul 7.
Authors
Jacob R Greenmyer
1
,
Whitney S Thompson
2
,
Stephanie Mavis
3
,
Sara Hassan
4
,
Jody Weckwerth
4
,
Charlotte Hobbs
5
,
Kiely James
5
,
Shareef Nahas
5
,
Paul Galardy
6
,
Christopher Collura
7
Affiliations
1
Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.
2
Pediatric and Adolescent Medicine, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
3
Neonatal and Perinatal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
4
Pediatric Transplant Hepatology, Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
5
Rady Children's Institute for Genomic Medicine, Rady Children's, San Diego, California, USA.
6
Pediatric Hematology and Oncology, Mayo Clinic, Rochester, Minnesota, USA.
7
Neonatal and Perinatal Medicine Palliative and Hospice Medicine, Mayo Clinic, Rochester, Minnesota, USA.
PMID:
35796407
DOI:
10.1002/pbc.29871
No abstract available
Publication types
Letter
MeSH terms
Humans
Infant, Newborn
Lymphohistiocytosis, Hemophagocytic* / diagnosis
Lymphohistiocytosis, Hemophagocytic* / genetics
Membrane Proteins
Perforin
Substances
Perforin
Membrane Proteins