Results 31 to 40 of about 4,354 (166)
Défaut d’exocytose des granules lytiques : Plusieurs causes, un même effet [PDF]
, 2006 Une réponse immune exagérée, incontrôlée et le plus souvent fatale, connue sous le nom de syndrome hémophagocytaire (SH), est associée à un défaut de la fonction cytotoxique des lymphocytes T et natural killer (NK).
de Saint Basile, Geneviève +4 more
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Neurological Manifestations in Primary Immunodeficiencies [PDF]
, 2016 As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M +5 more
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Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation [PDF]
, 2009 Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of ...
Borroni, R +6 more
core +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Natural Killer cells responsiveness to physical esercise: a brief review [PDF]
, 2013 Natural killer cells (NK) are a group of peripheral blood lymphocytes which display cytotoxic ac- tivity against a wide range of tumour cells. They are a consistent part of the inflammatory re- sponse that is activated when either internal or external ...
Concu A. +4 more
core +1 more source
Immunology, Volume 177, Issue 2, Page 355-369, February 2026.(A) Proposed model for Abl1 degradation via Nbeal2. Nbeal2 interacts with Abl1 with its WDR domain. This results in proteasomal degradation by a yet unidentified ubiquitin ligase. Therefore, Nbeal2 inactivation stabilises Abl1, which supports mast cell (MC) degeneration. (B) In wt MCs, the Abl1 protein level is controlled by Nbeal2. Furthermore, Nbeal2
Raphaela Marquardt +10 more
wiley +1 more source
Tissue‐Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts
American Journal of Hematology, Volume 100, Issue 12, Page 2305-2319, December 2025.ABSTRACT Although all myeloid cells are considered to derive from hematopoietic stem cells, the cells in each myeloid lineage are heterogeneous populations, and their distribution and functions vary, depending on underlying physiologic and pathologic processes, age, sex, and genetic and epigenetic signatures.
Peter Valent +27 more
wiley +1 more source
Imunodeficiências primárias dos fagócitos: prognóstico e terapêutica [PDF]
, 2015 Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasAs imunodeficiências primárias são a consequência de anomalias genéticas que ocorrem no ...
Coelho, Joana Maria Ferreira
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International Journal of Laboratory Hematology, Volume 47, Issue 6, Page 1025-1034, December 2025.ABSTRACT Introduction The clinical diagnosis of hematological diseases depends on the differential count of nucleated cells on the bone marrow (BM) smears, and an artificial intelligence (AI)‐based system was applied to automatically classify BM nucleated cells in pediatric hematological disease samples in this study.
Xin He +6 more
wiley +1 more source
Chediak−Higashi Syndrome [PDF]
Archives of Iranian medicine, 2020 Rambod, Mozafari +2 more
+5 more sources