المؤلفون: Eskioglou, Stefanos¹, Gheorghe, Loredana‐Mariana¹, Tsagarakis, Nikolaos J.¹, Chaliori, Ioulia¹, Chaniotaki, Sofia¹ sofixanio@gmail.com

المصدر: International Journal of Laboratory Hematology. Dec2024, Vol. 46 Issue 6, p994-996. 3p.

مصطلحات موضوعية: *CHEDIAK-Higashi syndrome, *BLOOD testing, *DIFFERENTIAL diagnosis, *FATIGUE (Physiology), *HEADACHE, *RARE diseases, *BLOOD cell count, *LYMPHOCYTES, *MUSCLE weakness, *SEPTIC shock, *NEUROLOGICAL disorders, *BODY movement, *BACTERIAL diseases, *NEUTROPENIA, *POSTURAL balance

المصدر: Investigations Into Chediak-Higashi Syndrome and Related Disorders

المؤلفون: Bakar, Asrar Abu¹ asrarabubakar@iium.edu.m, Shunmugarajoo, Haema², Nachiappan, Jeyaseelan P.², Ismail, Intan Hakimah³

المصدر: Pediatric Infection & Vaccine. Apr2024, Vol. 31 Issue 1, p122-129. 8p.

مصطلحات موضوعية: *CHEDIAK-Higashi syndrome, *IMMUNODEFICIENCY, *ALBINISM, *HEMATOPOIESIS, *LYSOSOMAL storage diseases

المصدر: A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime
Bhatt ST, Schulz G, Hente M, Slater A, Murray L, Shenoy S, Bednarski JJ. A single-center experience using alemtuzumab, fludarabine, melphalan, and thiotepa as conditioning for transplantation in pediatric patients with chronic granulomatous disease. Pediatr Blood Cancer. 2020 Jan;67(1):e28030. doi: 10.1002/pbc.28030. Epub 2019 Oct 10.

المؤلفون: Ezen, Ege, Çatak, Mehmet Cihangir, Çatak, Feyza Bayram, Piepoli, Sofia, Zahedimaram, Pegah, Ultanır, Ecem, Barış, Safa, Erman, Batu

المصدر: Turkish Journal of Immunology. 12(Suppl 1)

مصطلحات موضوعية: LRBA, LYST, CTLA4, immune dysregulation, common variable immunodeficiency, Chediak Higashi syndrome

URL الوصول: https://escholarship.org/uc/item/4534r5qh

المؤلفون: Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation

المساهمون: Laurent Servais, Professor

المصدر: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

المؤلفون: Buldeo, Suvarna¹ suvarna.buldeo@neubergglobal.com, Pillay, Ashendri², Chateau, Antoinette³, Dube-Pule, Anele⁴, Naicker, Thirona⁴

المصدر: Current Allergy & Clinical Immunology. Mar2024, Vol. 37 Issue 1, p11-13. 3p.

مصطلحات موضوعية: *CHEDIAK-Higashi syndrome, *GENETIC disorder diagnosis, *OPHTHALMOLOGY, *MEDICAL screening, *CLINICAL trials

المؤلفون: Alshimemeri, A., Al-Mishari, H., Ibrahim, G., Aly, IE, Al-Shimemeri, S., Almajid, F.

المصدر: Critical Care & Shock; 2024, Vol. 27 Issue 5, p245-250, 6p

مصطلحات موضوعية: PULMONARY aspergillosis, BRONCHIAL diseases, BIOPSY, CRITICALLY ill, PATIENTS, CHEDIAK-Higashi syndrome, COMPUTED tomography, ATELECTASIS, FEVER, CHEST X rays, TREATMENT effectiveness, COMMUNITY-acquired pneumonia, INTRAVENOUS therapy, INTENSIVE care units, VOMITING, COUGH, DYSPNEA, BRONCHOSCOPY, VORICONAZOLE, HYPOXEMIA

المؤلفون: Nair, Veena U.¹, Patil, Meghana¹, Basavaraju, Jayashree², Kudligi, Chandramohan² drchandramohankims@gmail.com, Choukimath, Sharanabasava M.³

المصدر: Indian Journal of Dermatology. Nov/Dec2023, Vol. 68 Issue 6, p726-729. 4p.

مصطلحات موضوعية: *STAINS & staining (Microscopy), *CHEDIAK-Higashi syndrome, *GRISCELLI syndrome, *HAIR diseases, *HAIR analysis, *HYPERPIGMENTATION, *DIFFERENTIAL diagnosis, *FACE, *CYTOCHEMISTRY, *EPITHELIAL cells, *HUMAN skin color, *KERATINOCYTES, *MELANOSIS

المصدر: Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

المؤلفون: Li, Rongjie¹, Xia, Shimei¹, Liao, Yingyan¹, Zhou, Bailing¹ 79769522@qq.com

المصدر: International Journal of Laboratory Hematology. Oct2024, Vol. 46 Issue 5, p766-767. 2p.

مصطلحات موضوعية: *CANCER relapse, *CHEDIAK-Higashi syndrome, *DIZZINESS, *TUMOR markers, *MUSCLE weakness, *CYTOPLASM

المؤلفون: Ege Ezen, Mehmet Cihangir Çatak, Feyza Bayram Çatak, Sofia Piepoli, Pegah Zahedimaram, Ecem Ultanır, Safa Barış, Batu Erman

المصدر: Turkish Journal of Immunology, Vol 12, Iss Suppl 1, Pp 37-46 (2024)

مصطلحات موضوعية: lrba, lyst, ctla4, immune dysregulation, common variable immunodeficiency, chédiak higashi syndrome, Medicine

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tji&un=TJI-21939; https://doaj.org/toc/1301-109X; https://doaj.org/toc/2147-8325; https://doaj.org/article/ceed223cd39f4227bd4907325a5a9888

الاتاحة: https://doi.org/10.4274/tji.galenos.2023.21939
https://doaj.org/article/ceed223cd39f4227bd4907325a5a9888

المؤلفون: Mackenzie E. Turner, Jingru Che, Gabriel J. M. Mirhaidari, Catherine C. Kennedy, Kevin M. Blum, Sahana Rajesh, Jacob C. Zbinden, Christopher K. Breuer, Cameron A. Best, Jenny C. Barker

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: lysosomes, vesicle traffic, Chédiak-Higashi syndrome, cancer, wound healing, immunotherapy, Immunologic diseases. Allergy, RC581-607

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1404846/full; https://doaj.org/toc/1664-3224; https://doaj.org/article/00d98c9b7f134f2b8324161ef0851867

الاتاحة: https://doi.org/10.3389/fimmu.2024.1404846
https://doaj.org/article/00d98c9b7f134f2b8324161ef0851867

المؤلفون: L. U. Ulukhanova, D. C. Amirkhanova, S. M. Attaeva, M. A. Ninalalov, N. C. Karnaeva

المصدر: Детские инфекции (Москва), Vol 22, Iss 1, Pp 62-65 (2023)

مصطلحات موضوعية: сhildren, primary immunodeficiency, chediak-higashi syndrome, albinism, peroxidase-positive giant granules, primary hemophagocytic lymphohistiocytosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://detinf.elpub.ru/jour/article/view/816; https://doaj.org/toc/2072-8107

URL الوصول: https://doaj.org/article/0df9a4119bdc4ca486392389a99c4304

المؤلفون: Oh, Shigeharu, 王, 茂治, オウ, シゲハル

مصطلحات موضوعية: Chediak-Higashi syndrome, induced pluripotent stem cells, giant granules, myeloid cells

وصف الملف: application/pdf

URL الوصول: https://ndlsearch.ndl.go.jp/books/R100000039-I13120246

Degree: 博士(医学) -- Doctor of Medical Science -- 京都大学

المؤلفون: Kalra, Suprita¹ kalrasuprita@gmail.com, Khera, Sanjeev¹, Sharma, Aditi¹, Daryani, Hitesh², Singh, Vikram³

المصدر: Pediatric Nephrology. Jun2022, Vol. 37 Issue 6, p1313-1315. 3p. 2 Color Photographs.

مصطلحات موضوعية: *CHEDIAK-Higashi syndrome, *SEQUENCE analysis, *BIOPSY, *INFLAMMATION, *CYTOCHEMISTRY, *ACUTE kidney failure, *FAILURE to thrive syndrome, ULTRASONIC imaging of the abdomen

المؤلفون: Buckley, RM, Grahn, RA, Gandolfi, B, Herrick, JR, Kittleson, MD, Bateman, HL, Newsom, J, Swanson, WF, Prieur, DJ, Lyons, LA

المصدر: Scientific reports. 10(1)

مصطلحات موضوعية: Cell Line, Fibroblasts, Animals, Cats, Chediak-Higashi Syndrome, Disease Models, Animal, Vesicular Transport Proteins, Pedigree, Genotype, Polymorphism, Genetic, Alleles, Exons, Female, Male, Disease Models, Animal, Polymorphism, Genetic

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7kq8q2bh

المؤلفون: Yamazaki‐Nakashimada, Marco Antonio, Solis‐Gamboa, María Isabel, Murata, Chiharu, Saez‐de‐Ocariz, Marimar

المصدر: Pediatrics International; Jan2024, Vol. 66 Issue 1, p1-3, 3p

مصطلحات موضوعية: GRISCELLI syndrome, FACE, CROSS-sectional method, PHYSICAL diagnosis, CHEDIAK-Higashi syndrome, DIFFERENTIAL diagnosis, HUMAN skin color, SUNBURN, DERMATOLOGY, PHOTOGRAPHY, DESCRIPTIVE statistics, MEDICAL students, HOSPITAL medical staff, PEDIATRICS, STATISTICS, PHYSICIANS, CONFIDENCE intervals, DATA analysis software

مصطلحات جغرافية: MEXICO

المساهمون: John Horan, Associate Professor

المصدر: Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases

المؤلفون: Sirisharani Siddiahgari, Santosh Kumar Soma, Chandravathi Penmetcha, Sandhya Vaddadi, Varshini Bandi, Lokesh Lingappa

المصدر: Indian Journal of Dermatology, Vol 67, Iss 2, Pp 164-168 (2022)

مصطلحات موضوعية: chediak–higashi syndrome, griscelli syndrome, hair examination, hermansky–pudlak syndrome, peripheral blood smear, silvery hair, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=2;spage=164;epage=168;aulast=Siddiahgari; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/cad55a2e1ac6499faab41e66cbd14101