Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described. We sought...
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| Published in | Journal of allergy and clinical immunology Vol. 140; no. 1; pp. 223 - 231 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.07.2017
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0091-6749 1097-6825 |
| DOI | 10.1016/j.jaci.2016.09.029 |
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| Abstract | Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described.
We sought to describe the clinical and immunologic phenotypes of Japanese patients with heterozygous IKZF1 mutations.
We performed whole-exome sequencing in patients from a dysgammaglobulinemia or autoimmune disease cohort and used a candidate gene approach in 4 patients. Functional and laboratory studies, including detailed lymphopoiesis/hematopoiesis analysis in the bone marrow, were performed.
Nine patients from 6 unrelated families were identified to have heterozygous germline mutations in IKZF1. Age of onset was 0 to 20 years (mean, 7.4 years). Eight of 9 patients presented with dysgammaglobulinemia accompanied by B-cell deficiency. Four of 9 patients had autoimmune disease, including immune thrombocytopenic purpura, IgA vasculitis, and systemic lupus erythematosus. Nonautoimmune pancytopenia was observed in 1 patient. All of the mutant Ikaros protein demonstrated impaired DNA binding to the target sequence and abnormal diffuse nuclear localization. Flow cytometric analysis of bone marrow revealed reduced levels of common lymphoid progenitors and normal development of pro-B to pre-B cells.
Germline heterozygous IKZF1 mutations cause dysgammaglobulinemia; hematologic abnormalities, including B-cell defect; and autoimmune diseases. |
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| AbstractList | Background Ikaros, which is encoded byIKZF1, is a transcriptional factor that play a critical role in hematopoiesis. SomaticIKZF1alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germlineIKZF1mutation has been described. Objective We sought to describe the clinical and immunologic phenotypes of Japanese patients with heterozygousIKZF1mutations. Methods We performed whole-exome sequencing in patients from a dysgammaglobulinemia or autoimmune disease cohort and used a candidate gene approach in 4 patients. Functional and laboratory studies, including detailed lymphopoiesis/hematopoiesis analysis in the bone marrow, were performed. Results Nine patients from 6 unrelated families were identified to have heterozygous germline mutations inIKZF1. Age of onset was 0 to 20 years (mean, 7.4 years). Eight of 9 patients presented with dysgammaglobulinemia accompanied by B-cell deficiency. Four of 9 patients had autoimmune disease, including immune thrombocytopenic purpura, IgA vasculitis, and systemic lupus erythematosus. Nonautoimmune pancytopenia was observed in 1 patient. All of the mutant Ikaros protein demonstrated impaired DNA binding to the target sequence and abnormal diffuse nuclear localization. Flow cytometric analysis of bone marrow revealed reduced levels of common lymphoid progenitors and normal development of pro-B to pre-B cells. Conclusions Germline heterozygousIKZF1mutations cause dysgammaglobulinemia; hematologic abnormalities, including B-cell defect; and autoimmune diseases. Background Ikaros, which is encoded by IKZF1 , is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described. Objective We sought to describe the clinical and immunologic phenotypes of Japanese patients with heterozygous IKZF1 mutations. Methods We performed whole-exome sequencing in patients from a dysgammaglobulinemia or autoimmune disease cohort and used a candidate gene approach in 4 patients. Functional and laboratory studies, including detailed lymphopoiesis/hematopoiesis analysis in the bone marrow, were performed. Results Nine patients from 6 unrelated families were identified to have heterozygous germline mutations in IKZF1 . Age of onset was 0 to 20 years (mean, 7.4 years). Eight of 9 patients presented with dysgammaglobulinemia accompanied by B-cell deficiency. Four of 9 patients had autoimmune disease, including immune thrombocytopenic purpura, IgA vasculitis, and systemic lupus erythematosus. Nonautoimmune pancytopenia was observed in 1 patient. All of the mutant Ikaros protein demonstrated impaired DNA binding to the target sequence and abnormal diffuse nuclear localization. Flow cytometric analysis of bone marrow revealed reduced levels of common lymphoid progenitors and normal development of pro-B to pre-B cells. Conclusions Germline heterozygous IKZF1 mutations cause dysgammaglobulinemia; hematologic abnormalities, including B-cell defect; and autoimmune diseases. Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described. We sought to describe the clinical and immunologic phenotypes of Japanese patients with heterozygous IKZF1 mutations. We performed whole-exome sequencing in patients from a dysgammaglobulinemia or autoimmune disease cohort and used a candidate gene approach in 4 patients. Functional and laboratory studies, including detailed lymphopoiesis/hematopoiesis analysis in the bone marrow, were performed. Nine patients from 6 unrelated families were identified to have heterozygous germline mutations in IKZF1. Age of onset was 0 to 20 years (mean, 7.4 years). Eight of 9 patients presented with dysgammaglobulinemia accompanied by B-cell deficiency. Four of 9 patients had autoimmune disease, including immune thrombocytopenic purpura, IgA vasculitis, and systemic lupus erythematosus. Nonautoimmune pancytopenia was observed in 1 patient. All of the mutant Ikaros protein demonstrated impaired DNA binding to the target sequence and abnormal diffuse nuclear localization. Flow cytometric analysis of bone marrow revealed reduced levels of common lymphoid progenitors and normal development of pro-B to pre-B cells. Germline heterozygous IKZF1 mutations cause dysgammaglobulinemia; hematologic abnormalities, including B-cell defect; and autoimmune diseases. BACKGROUNDIkaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described.OBJECTIVEWe sought to describe the clinical and immunologic phenotypes of Japanese patients with heterozygous IKZF1 mutations.METHODSWe performed whole-exome sequencing in patients from a dysgammaglobulinemia or autoimmune disease cohort and used a candidate gene approach in 4 patients. Functional and laboratory studies, including detailed lymphopoiesis/hematopoiesis analysis in the bone marrow, were performed.RESULTSNine patients from 6 unrelated families were identified to have heterozygous germline mutations in IKZF1. Age of onset was 0 to 20 years (mean, 7.4 years). Eight of 9 patients presented with dysgammaglobulinemia accompanied by B-cell deficiency. Four of 9 patients had autoimmune disease, including immune thrombocytopenic purpura, IgA vasculitis, and systemic lupus erythematosus. Nonautoimmune pancytopenia was observed in 1 patient. All of the mutant Ikaros protein demonstrated impaired DNA binding to the target sequence and abnormal diffuse nuclear localization. Flow cytometric analysis of bone marrow revealed reduced levels of common lymphoid progenitors and normal development of pro-B to pre-B cells.CONCLUSIONSGermline heterozygous IKZF1 mutations cause dysgammaglobulinemia; hematologic abnormalities, including B-cell defect; and autoimmune diseases. |
| Author | Nakazawa, Yozo Shiraishi, Yuichi Chiba, Kenichi Nishimura, Shiho Ueno, Hiroo Ogawa, Seishi Okada, Satoshi Tanaka, Hiroko Nonoyama, Shigeaki Miyano, Satoru Kojima, Seiji Okuno, Yusuke Hoshino, Akihiro Okano, Tsubasa Tsumura, Miyuki Kobayashi, Masao Mitsui-Sekinaka, Kanako Sakata, Sonoko Nakamura, Haruna Yamashita, Motoi Kamizono, Junji Yoshida, Kenichi Kanegane, Hirokazu Ohga, Shouichi Ichimura, Takuya Takagi, Masatoshi Imai, Kohsuke Morio, Tomohiro Nishida, Naonori |
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fullname: Nishimura, Shiho organization: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan – sequence: 11 givenname: Sonoko surname: Sakata fullname: Sakata, Sonoko organization: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan – sequence: 12 givenname: Masao surname: Kobayashi fullname: Kobayashi, Masao organization: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan – sequence: 13 givenname: Haruna surname: Nakamura fullname: Nakamura, Haruna organization: Department of Pediatrics, National Mie Hospital, Tsu, Japan – sequence: 14 givenname: Junji surname: Kamizono fullname: Kamizono, Junji organization: Department of Pediatrics, Kitakyushu City Yahata Hospital, Kitakyushu, Japan – sequence: 15 givenname: Kanako surname: Mitsui-Sekinaka fullname: Mitsui-Sekinaka, Kanako organization: Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan – sequence: 16 givenname: Takuya surname: Ichimura fullname: Ichimura, Takuya organization: Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan – sequence: 17 givenname: Shouichi surname: Ohga fullname: Ohga, Shouichi organization: Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan – sequence: 18 givenname: Yozo surname: Nakazawa fullname: Nakazawa, Yozo organization: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan – sequence: 19 givenname: Masatoshi surname: Takagi fullname: Takagi, Masatoshi organization: Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan – sequence: 20 givenname: Kohsuke surname: Imai fullname: Imai, Kohsuke organization: Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan – sequence: 21 givenname: Yuichi surname: Shiraishi fullname: Shiraishi, Yuichi organization: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan – sequence: 22 givenname: Kenichi surname: Chiba fullname: Chiba, Kenichi organization: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan – sequence: 23 givenname: Hiroko surname: Tanaka fullname: Tanaka, Hiroko organization: Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan – sequence: 24 givenname: Satoru surname: Miyano fullname: Miyano, Satoru organization: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan – sequence: 25 givenname: Seishi surname: Ogawa fullname: Ogawa, Seishi organization: Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan – sequence: 26 givenname: Seiji surname: Kojima fullname: Kojima, Seiji organization: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan – sequence: 27 givenname: Shigeaki surname: Nonoyama fullname: Nonoyama, Shigeaki organization: Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan – sequence: 28 givenname: Tomohiro surname: Morio fullname: Morio, Tomohiro organization: Department of Pediatrics and Developmental Biology, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan – sequence: 29 givenname: Hirokazu surname: Kanegane fullname: Kanegane, Hirokazu email: hkanegane.ped@tmd.ac.jp organization: Department of Pediatrics and Developmental Biology, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27939403$$D View this record in MEDLINE/PubMed |
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| Copyright | 2016 American Academy of Allergy, Asthma & Immunology American Academy of Allergy, Asthma & Immunology Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. Copyright Elsevier Science Ltd. Jul 1, 2017 |
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| Keywords | LMPP ITP WES common lymphoid progenitor CLP dysgammaglobulinemia CMP B-cell deficiency IKZF1 GMP ZF autoimmune disease germline mutation SLE DNA binding BCP-ALL Acute lymphoblastic leukemia Ikaros EMSA nuclear localization Ph HSC HSCT WT Common myeloid progenitor Lymphoid-primed multipotent progenitor Systemic lupus erythematosus Philadelphia positive Zinc finger Granulomonocyte progenitor Hematopoietic stem cell transplantation B-cell precursor acute lymphoblastic leukemia Whole-exome sequencing Wild-type Hematopoietic stem cell Immune thrombocytopenic purpura Electrophoresis mobility shift assay |
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| Snippet | Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved... Background Ikaros, which is encoded by IKZF1 , is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to... Background Ikaros, which is encoded byIKZF1, is a transcriptional factor that play a critical role in hematopoiesis. SomaticIKZF1alterations are known to be... BACKGROUNDIkaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be... |
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| SubjectTerms | Acute lymphoblastic leukemia Adolescent Adult Age Allergy and Immunology autoimmune disease Autoimmune diseases Autoimmune Diseases - genetics Autoimmune Diseases - immunology Autoimmunity B-cell deficiency B-Lymphocytes - immunology Bone marrow Cell cycle Child common lymphoid progenitor Deoxyribonucleic acid DNA DNA binding dysgammaglobulinemia Female Flow cytometry Genomes Germ-Line Mutation germline mutation Hematologic Diseases - genetics Hematologic Diseases - immunology Hematopoiesis - genetics Hemopoiesis Humans Ikaros Ikaros protein Ikaros Transcription Factor - genetics Ikaros Transcription Factor - immunology IKZF1 Immunodeficiency Immunoglobulin A Kinases Leukemia Localization Lymphocyte Count Lymphocytes B Lymphopoiesis Male Mutation nuclear localization Nucleotide sequence Pancytopenia Pediatrics Plasmids Purpura Stem cells Systemic lupus erythematosus T-Lymphocytes - immunology Thrombocytopenic purpura Transcription factors Vasculitis Young Adult |
| Title | Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations |
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