نتایج جستجو برای: severe combined immune deficiency
تعداد نتایج: 1039889 فیلتر نتایج به سال:
a Sección de Alergia e Inmunología Clínica, Hospital Sant Joan de Déu, Barcelona, Spain b Consulta Immunologia i Al·lèrgia Pediàtrica, Hospital General de Granollers, Barcelona, Spain c Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain d Grup d’Immunodefici...
Background: Immune deficiency is one of the major causes of morbidity and mortality in the modern world. Primary immunodeficiency comprises a wide range of disorders that mainly manifest in early childhood as devastating infections with opportunistic organisms. Thymic aplasia is found on autopsy of some patients afflicted with immune deficiency disorders, such as DiGeorge syndrome and severe co...
major histocompatibility complex (mhc) class ii deficiency is a primary immunodeficiency disease characterized by abnormality of mhc class ii molecules surface expression on peripheral blood lymphocytes and monocytes. clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as scid (severe combined immunodeficien...
Immune surveillance is a dynamic process that involves an intact immune system to identify and protect the host against tumor development. The increased understanding of the genetics, infections and hematological malignancies in congenital immune deficiency states supports the concept that impaired T cells and Natural-killer/T cells leads to B-cell lymphoma. Furthermore, severe combined immunod...
In this issue of Blood, Touzot et al report that autologous gene therapy/hematopoietic stem cell transplantation (HSCT) for infants with X-linked severe combined immune deficiency (SCID-X1) lacking a matched sibling donor may have better outcomes than haploidentical (haplo) HSCT. Because gene therapy represents an autologous transplant, it obviates immune suppression before and after transplant...
Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, espec...
هدف: تعیین فراوانی کمبود ویتامین d درمراجعه کنندگان به درمانگاه غدد بالغین بیمارستان بوعلی تهران طی سال های1388-1387 مواد و روش ها: مطالعه در سال 1387 در درمانگاه غدد بیمارستان بوعلی آغاز شد. جمعیت مورد مطالعه بیمارانی بودند که جهت درمان به درمانگاه غدد مراجعه کرده بودند. اطلاعات جمع آوری شده شامل مشخصات از جمله سن، جنس، قد، وزن و علت مراجعه به درمانگاه ویافته های آزمایشگاهی مانند سطح سرمی (o...
Adenosine deaminase (ADA) deficiency results in the accumulation of toxic metabolites that destroy the immune system, causing severe combined immunodeficiency (ADA-SCID), often referred to as the "bubble boy" disease. Strimvelis is a European Medicines Agency approved gene therapy for ADA-SCID patients without a suitable bone marrow donor.
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