نتایج جستجو برای: linked lymphoproliferative syndrome
تعداد نتایج: 843487 فیلتر نتایج به سال:
Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that characterized by severe immunodeficiency. It is also associated with a lymphoproliferative disorder termed the accelerated phase with lymphocytic infiltration of the major organ of the body. Case Report: The patients was a 1-year old boy with intermittent fever, anorexia, malaise. On physical examination h...
The term ‘hypothesis’ is part of the Linked Science Core Vocabulary (LSC) as one of the core elements for making scientific assets explicit and linked in the web of data. Hypotheses are generally understood as propositions for explaining observed phenomena, but eliciting and linking hypotheses can be a challenge. In this paper, we elaborate on a semantic view on hypotheses and their linkage, by...
To optimize the subindex for functional longevity in Austrian Fleckvieh, an approximate multivariate approach was analyzed. Genetic parameters for functional longevity and five type traits were estimated multivariately based on yield deviations. Genetic parameters differed slightly from the ones used in the routine evaluation. Indices and reliabilities computed in a full multivariate approach w...
X-linked inhibitor of apoptosis (XIAP) deficiency, also known as X-linked lymphoproliferative syndrome type 2 (XLP2), is a rare inherited primary immunodeficiency resulting from the XIAP (also known as BIRC4) mutation. XIAP deficiency is mainly associated with familial hemophagocytic lymphohistiocytosis (HLH) phenotypes, and genetic testing is crucial in diagnosing this syndrome. Allogeneic hem...
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, the causative mechanism of ID is unknown and the...
epstein barr virus (ebv) is one of seven known herpes virus pathogenic for humans.since it is ubiquitous, it infects nearly 95% of individuals worldwide by adulthood .ebv is the etiologic agent of infectious mononucleosis(im)and is implicated in burkitt lymphoma,nasopharyngeal carcinoma and x-linked lymphoproliferative syndrome.diagnosis of im based upon clinical manifesta¬tions in conjunction ...
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