Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

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Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagnosed with inflammatory bowel disease. Further immunological screening at the age of 7 years showe...

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Chronic enteropathy and feeding.

Enteropathy defines abnormalities of the small intestinal mucosa, visible with the light microscope, of various etiologies, that can be separated into acute versus chronic conditions. This review focuses on these areas in which recent progress has been made. Severe infections increase mucosal permeability and induce local expression of co-stimulatory molecules allowing antigen penetration in th...

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Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.

We describe an unusual case of severe combined immunodeficiency (SCID) with neutropenia and central nervous system (CNS) manifestations in which a novel RAG1 mutation was identified. A 15-month-old boy presented with failure to thrive, neutropenia and recurrent infections. He was diagnosed with T-B-NK+ SCID. He subsequently developed right partial seizures with ipsilateral hemiparesis and becam...

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Hepatotoxicity in sheep and goats caused by experimental feeding with foxtail millet (Setaria italica)

Background: Some species of grass cause poisoning and hepatogenous photosensitization in animals. OBJECTIVES: Feeding trials were conducted in sheep and goats to evaluate the hepatotoxic effects of Setaria italica (S. italica). METHODS: Twelve indigenous male sheep and goats were used in this study. The animals were kept outdoors against prevailing climatic conditions. They were fed with S. ita...

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‏‎a comparative study of language learning strategies employmed by bilinguals and monolinguals with reference to attitudes and motivation‎‏

هدف از این تحقیق بررسی برخی عوامل ادراکی واحساسی یعنی استفاده از شیوه های یادگیری زبان ، انگیزه ها ونگرش نسبت به زبان انگلیسی در رابطه با زمینه زبانی زبان آموزان می باشد. هدف بررسی این نکته بود که آیا اختلافی چشمگیر میان زبان آموزان دو زبانه و تک زبانه در میزان استفاده از شیوه های یادگیری زبان ، انگیزه ها نگرش و سطح مهارت زبانی وجود دارد. همچنین سعی شد تا بهترین و موثرترین عوامل پیش بینی کننده ...

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ژورنال

عنوان ژورنال: Frontiers in Pediatrics

سال: 2017

ISSN: 2296-2360

DOI: 10.3389/fped.2017.00037