نتایج جستجو برای: linked lymphoproliferative syndrome
تعداد نتایج: 843487 فیلتر نتایج به سال:
Autoimmune lymphoproliferative syndrome (ALPS) is a prototypic disorder of abnormal lymphocyte homeostasis. In the September 2005 issue of The Iranian Journal of Allergy, Asthma and Immunology, a patient with clinical features consistent with ALPS was described. Although the clinical presentation was in favor of ALPS, a precise diagnosis needed more laboratory evaluations.
“This is an important breakthrough for industry now all 3 sources of possible information on an animal, pedigree, its own performance and that of its recorded relatives, and its own DNA test, can be combined into a single EBV. Industry has sought this outcome, and it will help avoid confusion for breeders and producers through information overload”, said Peter Parnell, CEO of Angus Australia. O...
X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concer...
BACKGROUND Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune lymphoproliferative syndrome (ALPS). We studied six children with ALPS whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro. METHODS Susceptibility to Fas-mediated apoptosis and the Fas gene were analyzed in purified subgroups of T cells and other mononuclear cells ...
We describe 2 cases of autoimmune lymphoproliferative syndrome (ALPS), which is a rare disorder of auto-immunity, chronic persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly and hyper gamma globulinemia (1gG, 1gA). Both cases presented in neonatal period which is a rare age of presentation in this disease. A 20 days old female neonate presented with respiratory symptoms which ra...
X chromosome inactivation (XCI) is the process by which the dosage imbalance of X-linked genes between XX females and XY males is functionally equalized. XCI modulates the phenotype of females carrying mutations in X-linked genes, as observed in X-linked dominant male-lethal disorders such as oral-facial-digital type I (OFDI) and microphthalmia with linear skin-defects syndromes. The remarkable...
Females outperform males on many social cognitive tasks. X-linked genes may contribute to this sex difference. Males possess one X chromosome, while females possess two X chromosomes. Functional variations in X-linked genes are therefore likely to impact more on males than females. Previous studies of X-monosomic women with Turner syndrome suggest a genetic association with facial fear recognit...
X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 and RPGR, were detected in only 10% and 20% of families with XLRP. Mutations in...
background the etiology of the guillain-barre syndrome (gbs) is not clear; in many cases, gbs is triggered by a bacterial or viral illness. objectives to evaluate the role of active infection with herpesviridae group and its association with this syndrome we have investigated the cerebrospinal fluid (csf) and serum of patients with gbs for detection of these viruses. patients and methods in a pr...
idiopathic hypogonadotropic hypogonadism (ihh) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (gnrh) leading to absence or incomplete sexual maturation. one of the disorders leading to ihh is kallmann syndrome which is characterized by gnrh deficiency with anosmia or hyposmia. this disorder generally occurs as a hereditary syndrome with x-linked recessive inhe...
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