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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Published in:	Journal of clinical immunology Vol. 38; no. 1; pp. 77 - 87
Main Authors:	Liu, Qian, Li, Zhanzhuo, Y. Yang, Alexander, Gao, Ji-Liang, S. Velez, Daniel, J. Cho, Elena, McDermott, David H., Murphy, Philip M.
Format:	Journal Article
Language:	English
Published:	New York Springer US 01.01.2018 Springer Nature B.V
Subjects:	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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Abstract	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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 R334X , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4 +/o HSCs replaced CXCR4 +/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2–3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4 +/o mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09’s granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09’s neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted by chromothripsis.
AbstractList	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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 R334X , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4 +/o HSCs replaced CXCR4 +/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2-3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4 +/o mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09's granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09's neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted 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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 R334X , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4 +/o HSCs replaced CXCR4 +/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2-3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4 +/o mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09's granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09's neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted 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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 R334X , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4 +/o HSCs replaced CXCR4 +/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2–3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4 +/o mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09’s granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09’s neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted 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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4R334X, and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4+/o HSCs replaced CXCR4+/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2–3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4+/o mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09’s granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09’s neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted 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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4R334X, and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4+/o HSCs replaced CXCR4+/R334X WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~2–3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4+/0 mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09’s granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09’s neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted 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 not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC). Chromothriptic CXCR4 HSCs replaced CXCR4 WHIM HSCs, and the ANC rose to a new sustained and benign baseline ~ 2-3-fold above normal that had remained unexplained. Here, we show that splenectomized Cxcr4 mice had sustained and benign neutrophilia, phenocopying neutrophilia in WHIM-09. In addition, WHIM-09's granulocyte-macrophage precursor cells possessed increased granulocyte colony-forming activity ex vivo. Thus, WHIM-09's neutrophilia may be multifactorial, involving neutrophil-extrinsic factors (splenectomy), as well as CXCR4 haploinsufficiency-dependent neutrophil-intrinsic factors (increased myeloid precursor cell differentiation). The strong bone marrow retention signal for neutrophils conferred by the WHIM mutation may have prevented neutrophilia after splenectomy until the mutation was deleted by chromothripsis.
Author	Li, Zhanzhuo Y. Yang, Alexander Gao, Ji-Liang Murphy, Philip M. Liu, Qian McDermott, David H. J. Cho, Elena S. Velez, Daniel
Author_xml	– sequence: 1 givenname: Qian surname: Liu fullname: Liu, Qian organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 2 givenname: Zhanzhuo surname: Li fullname: Li, Zhanzhuo organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 3 givenname: Alexander surname: Y. Yang fullname: Y. Yang, Alexander organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 4 givenname: Ji-Liang surname: Gao fullname: Gao, Ji-Liang organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 5 givenname: Daniel surname: S. Velez fullname: S. Velez, Daniel organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 6 givenname: Elena surname: J. Cho fullname: J. Cho, Elena organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 7 givenname: David H. surname: McDermott fullname: McDermott, David H. organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 8 givenname: Philip M. surname: Murphy fullname: Murphy, Philip M. email: pmm@nih.gov organization: Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health
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Snippet	WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils....
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SubjectTerms	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
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Title	Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis
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