A rare form of congenital neutropenia: VPS45 deficiency
Scand J Immunol
.
2020 May;91(5):e12871.
doi: 10.1111/sji.12871.
Epub 2020 Feb 27.
Authors
Betül Karaatmaca
1
,
Deniz Cagdas
1
2
,
Çağman Tan
2
,
Selin Aytaç
3
,
Begüm Özbek
2
,
Ayşegül Üner
4
,
Fatma Gümrük
3
,
İlhan Tezcan
1
2
Affiliations
1
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
2
Institute of Child Health, Section of Pediatric Immunology, Institute of Halth Sciences, Hacettepe University, Ankara, Turkey.
3
Division of Pediatric Hematology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
4
Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
PMID:
32037586
DOI:
10.1111/sji.12871
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Humans
Infant
Male
Mutation, Missense
Neutropenia / congenital*
Neutropenia / genetics*
Vesicular Transport Proteins / genetics*
Substances
VPS45 protein, human
Vesicular Transport Proteins
Grants and funding
TSA-2016-9087/Scientific Research Unit of Hacettepe University/International