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10.1136/bcr-2014-205088 http://scihub22266oqcxt.onion/10.1136/bcr-2014-205088 C4173148!4173148!25253482     free     free     free       BMJ+Case+Rep 2014 ; 2014 (ä): ä Nephropedia Template TP {{tp|p=25253482|t=2014. A rare primary immunodeficiency |pdf=|usr=}}{{25253482}} gab.com Text A rare primary immunodeficiency JO: BMJ Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=25253482 #FOAvip A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2?years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody induration of the vulva. Autosomal dominant hyper-IgE syndrome was suspected and confirmed by very high serum IgE levels. Vulval biopsy revealed a premalignant condition. STAT 3 mutation, which is usually responsible for this condition, was not found in our case, indicating an as yet unidentified mutation. The child also had unusual features like the total absence of clinical and radiological features of pneumonia. The premalignant change in the vulva was also unusual since vulval carcinoma has not been reported so far in children with this disorder. This child will require a close follow-up to look for malignant transformation. Twit Text FOAVip A rare primary immunodeficiency ????BMJ Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=25253482 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25253482 #FOAvip English Wikipedia <ref>{{Cite pmid|25253482}}</ref> A rare primary immunodeficiency #MMPMID25253482 Nagaraj P; Sivathanu S; Sampath S; Ramakrishnan N BMJ Case Rep 2014[]; 2014 (ä): ä PMID25253482show ga A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2?years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody induration of the vulva. Autosomal dominant hyper-IgE syndrome was suspected and confirmed by very high serum IgE levels. Vulval biopsy revealed a premalignant condition. STAT 3 mutation, which is usually responsible for this condition, was not found in our case, indicating an as yet unidentified mutation. The child also had unusual features like the total absence of clinical and radiological features of pneumonia. The premalignant change in the vulva was also unusual since vulval carcinoma has not been reported so far in children with this disorder. This child will require a close follow-up to look for malignant transformation. äA rare primary immunodeficiency (epmc).pdf DeepDyve Pubget Overpricing