Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA
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منابع مشابه
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
متن کاملPresence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes ma...
متن کاملA Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کاملSevere Darier's disease patient with mutation of ATP2A2
Darier's disease (DD, OMIM 124200) is an autosomal dominant genodermatosis [1, 2] characterized by warty papules and plaques in seborrheic areas, such as the central trunk, flexures, scalp and forehead. The palms and soles show punctuate keratoses, and nail involvement includes subungual hyperkeratosis, fragility and triangular nicking of the free edges. Heat and sweating may exacerbate the dis...
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ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2015
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-015-0223-8