المؤلفون: Zhou W; Department of Nephrology, Molecular Cell Lab for Kidney Disease, Shanghai Peritoneal Dialysis Research Center, Uremia Diagnosis and Treatment Center, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Lane JC; Division of Kidney Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Chang A; Department of Pathology, University of Chicago Medical Center, Chicago, Illinois, USA. Electronic address: Anthony.Chang@bsd.uchicago.edu.

المصدر: Kidney international [Kidney Int] 2024 Aug; Vol. 106 (2), pp. 320.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/pathology , Chediak-Higashi Syndrome*/diagnosis , Chediak-Higashi Syndrome*/genetics , Chediak-Higashi Syndrome*/complications , Lysosomes*/metabolism, Humans ; Male ; Female

المؤلفون: McKeague S; Royal Brisbane and Women's Hospital, Herston, Australia., O'Rourke K; Sullivan Nicolaides Pathology, Tugun, Queensland, Australia., Adams R; Sullivan Nicolaides Pathology, Tugun, Queensland, Australia., Harvey Y; Sullivan Nicolaides Pathology, Tugun, Queensland, Australia., Keng TB; Sullivan Nicolaides Pathology, Tugun, Queensland, Australia., Kennedy G; Royal Brisbane and Women's Hospital, Herston, Australia.

المصدر: British journal of haematology [Br J Haematol] 2024 May; Vol. 204 (5), pp. 1571-1572. Date of Electronic Publication: 2024 Mar 12.

نوع المنشور: Case Reports; Letter; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/pathology , Chediak-Higashi Syndrome*/therapy, Humans ; Hematopoietic Stem Cell Transplantation ; Male ; Transplantation, Homologous ; Transplantation Chimera ; Female ; Allografts

المؤلفون: An Z; Department of Clinical Laboratory, 71213 The Second Hospital of Hebei Medical University , Shijiazhuang, Hebei Province, P.R. China., Hou X; Department of Clinical Laboratory, 220742 The First Hospital of Hebei Medical University , Shijiazhuang, Hebei Province, P.R. China., Yang Y; Department of Clinical Laboratory, 71213 The Second Hospital of Hebei Medical University , Shijiazhuang, Hebei Province, P.R. China., Gao J; Department of Clinical Laboratory, 71213 The Second Hospital of Hebei Medical University , Shijiazhuang, Hebei Province, P.R. China., Hao J; Department of Clinical Laboratory, 71213 The Second Hospital of Hebei Medical University , Shijiazhuang, Hebei Province, P.R. China.

المصدر: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2024 Apr 15; Vol. 62 (9), pp. e203-e205. Date of Electronic Publication: 2024 Apr 15 (Print Publication: 2024).

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE

مواضيع طبية MeSH: Philadelphia Chromosome* , Chediak-Higashi Syndrome*/genetics , Chediak-Higashi Syndrome*/pathology , Chediak-Higashi Syndrome*/diagnosis, Humans ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Karyotype ; Male ; Female ; Karyotyping

المؤلفون: Hazarika B; Department of Haematology, Batra Hospital and Medical Research Centre, New Delhi, India., Bain BJ; Centre for Haematology, Department of Immunology and Inflammation, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK.

المصدر: American journal of hematology [Am J Hematol] 2024 Mar; Vol. 99 (3), pp. 457-458. Date of Electronic Publication: 2023 Oct 04.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Myeloid, Acute*/genetics , Chediak-Higashi Syndrome*/genetics, Humans

المؤلفون: Morimoto M; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Nicoli ER; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Kuptanon C; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Roney JC; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Serra-Vinardell J; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Sharma P; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Institutes of Health, Bethesda, Maryland, USA., Gallin JI; Clinical Pathophysiology Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Holland SM; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Rosenzweig SD; Department of Laboratory Medicine, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA., Barbot J; Unidade de Hematologia, Serviço de Pediatria, Centro Hospitalar do Porto, Porto, Portugal., Ciccone C; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Huizing M; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Introne WJ; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA maychristine.malicdan@nih.gov.; Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

المصدر: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 212-223. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/genetics , Chediak-Higashi Syndrome*/diagnosis , Chediak-Higashi Syndrome*/pathology, Humans ; Mutation ; Proteins/genetics ; Mutation, Missense ; Base Sequence ; Vesicular Transport Proteins/genetics

المؤلفون: Stoieva M; University of Kansas Medical Center., Hogan K; University of Kansas Medical Center.

المصدر: Blood [Blood] 2024 Jul 25; Vol. 144 (4), pp. 462.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Inclusion Bodies*/pathology, Humans ; Chediak-Higashi Syndrome/pathology ; Chediak-Higashi Syndrome/diagnosis ; Male ; Female

المؤلفون: Bosch-Schips M; Hospital Universitari Vall d'Hebron., Navarrete M; Hospital Universitari Vall d'Hebron.

المصدر: Blood [Blood] 2023 Aug 31; Vol. 142 (9), pp. 856.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/diagnosis , Chediak-Higashi Syndrome*/genetics, Child, Preschool ; Humans ; Male ; Hematologic Tests

المؤلفون: Talbert ML; Human Biochemical Genetics Section, Medical Genetics Branch., Malicdan MCV; Human Biochemical Genetics Section, Medical Genetics Branch.; Undiagnosed Diseases Program.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

المصدر: Current opinion in hematology [Curr Opin Hematol] 2023 Jul 01; Vol. 30 (4), pp. 144-151. Date of Electronic Publication: 2023 Apr 25.

نوع المنشور: Review; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams And Wilkins Country of Publication: United States NLM ID: 9430802 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-7048 (Electronic) Linking ISSN: 10656251 NLM ISO Abbreviation: Curr Opin Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/diagnosis , Chediak-Higashi Syndrome*/genetics , Chediak-Higashi Syndrome*/therapy, Humans ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism ; Lysosomes/metabolism ; Bone Marrow Transplantation ; Mutation

المؤلفون: Safavi M; Pathology Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

المصدر: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2023 Apr; Vol. 42 (2), pp. 259-262. Date of Electronic Publication: 2022 May 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Chediak-Higashi Syndrome*/complications , Chediak-Higashi Syndrome*/diagnosis , Lymphohistiocytosis, Hemophagocytic*/complications , Lymphohistiocytosis, Hemophagocytic*/diagnosis, Female ; Humans ; Infant ; Skin ; Vesicular Transport Proteins ; Dexamethasone/therapeutic use

المؤلفون: Fan Y, Jiang L, Wang N, Liu X, Zhang L

المصدر: Clinical laboratory [Clin Lab] 2023 May 01; Vol. 69 (5).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Clinical Laboratory Publications Country of Publication: Germany NLM ID: 9705611 Publication Model: Print Cited Medium: Internet ISSN: 1433-6510 (Print) Linking ISSN: 14336510 NLM ISO Abbreviation: Clin Lab Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Myeloid, Acute*/diagnosis , Chediak-Higashi Syndrome*/diagnosis , Chediak-Higashi Syndrome*/pathology , Myelodysplastic Syndromes*/diagnosis , Myelodysplastic Syndromes*/pathology, Humans ; Cytoplasmic Granules/pathology ; Granulocytes ; Inclusion Bodies/pathology