It appears you don't have support to open PDFs in this web browser. To view this file, Open with your PDF reader
Abstract
Germline ATM gene variations result in phenotypic heterogeneity characterized by a variable degree of disease severity. We retrospectively collected clinical, genetic, and immunological data of 26 cases with A-T. Clinical manifestations included oculocutaneous telangiectasia (100%), ataxia (100%), fever, loose stools or infection (67%), cerebellar atrophy (50%), nystagmus (8%), dysarthria (15.38%), and visual impairment (8%). Genetic analysis confirmed ATM gene variations in 16 unrelated cases. The most common type of variation was stopgain variants (56%). Immunoglobulin profile indicated reduced IgA, IgG, and IgM in 94%, 50%, and 20% cases, respectively. T cell lymphopenia was observed in 80% of cases among those investigated. Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndrome-like presentation in two cases. Increased immunosenescence was observed in T-cell subsets (CD4+CD57+ and CD8+CD57+). T-cell receptor excision circles (TRECs) were reduced in 3/8 (37.50%) cases.
You have requested "on-the-fly" machine translation of selected content from our databases. This functionality is provided solely for your convenience and is in no way intended to replace human translation. Show full disclaimer
Neither ProQuest nor its licensors make any representations or warranties with respect to the translations. The translations are automatically generated "AS IS" and "AS AVAILABLE" and are not retained in our systems. PROQUEST AND ITS LICENSORS SPECIFICALLY DISCLAIM ANY AND ALL EXPRESS OR IMPLIED WARRANTIES, INCLUDING WITHOUT LIMITATION, ANY WARRANTIES FOR AVAILABILITY, ACCURACY, TIMELINESS, COMPLETENESS, NON-INFRINGMENT, MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE. Your use of the translations is subject to all use restrictions contained in your Electronic Products License Agreement and by using the translation functionality you agree to forgo any and all claims against ProQuest or its licensors for your use of the translation functionality and any output derived there from. Hide full disclaimer
Details
1 Postgraduate Institute of Medical Education and Research (PGIMER), Allergy and Immunology Laboratory, Department of Pediatrics, Advanced Pediatric Centre, Chandigarh, India (GRID:grid.415131.3) (ISNI:0000 0004 1767 2903)
2 Postgraduate Institute of Medical Education and Research, Department of Histopathology, Chandigarh, India (GRID:grid.415131.3) (ISNI:0000 0004 1767 2903)
3 Post Graduate Institute of Medical Education and Research, Pediatric Neurology Unit, Department of Pediatrics, Chandigarh, India (GRID:grid.415131.3) (ISNI:0000 0004 1767 2903)
4 National Defense Medical College (Japan), Saitama, Japan (GRID:grid.416614.0) (ISNI:0000 0004 0374 0880)
5 National Defense Medical College (Japan), Saitama, Japan (GRID:grid.416614.0) (ISNI:0000 0004 0374 0880); Tokyo Medical and Dental University, Tokyo, Japan (GRID:grid.265073.5) (ISNI:0000 0001 1014 9130)