Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis

WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. Originally diagnosed incorrectly with autoimmune neutropenia, the patient underwent splenectomy at age 9, but the absolute neutrophil count (ANC) did...

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Vydáno v:	Journal of clinical immunology Ročník 38; číslo 1; s. 77 - 87
Hlavní autoři:	Liu, Qian, Li, Zhanzhuo, Y. Yang, Alexander, Gao, Ji-Liang, S. Velez, Daniel, J. Cho, Elena, McDermott, David H., Murphy, Philip M.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	New York Springer US 01.01.2018 Springer Nature B.V
Témata:	Alleles Animals Benign Biomedical and Life Sciences Biomedicine Bone marrow Cell Differentiation - genetics Child Chromosome 2 Chromothripsis CXCR4 protein Disease Models, Animal Female Granulocytes Haploinsufficiency Hematopoietic stem cells Hematopoietic Stem Cells - physiology Humans Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunology Infectious Diseases Internal Medicine Leukocytes (granulocytic) Leukocytes (neutrophilic) Macrophages Medical Microbiology Mice Mice, Inbred C57BL Mice, Knockout Mutation Mutation - genetics Neutropenia Neutrophilia Neutrophils Neutrophils - physiology Original Article Primary Immunodeficiency Diseases Receptors, CXCR4 - genetics Splenectomy Stem cells Warts - diagnosis Warts - genetics mutation CXCR4 HSC WHIM syndrome Neutrophilia chromothripsis
ISSN:	0271-9142, 1573-2592, 1573-2592
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