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Keywords: primary immunodeficiencies, next generation sequencing, clinical exome sequencing, TruSight one sequencing panel, mutations, genetic variants Author: Roger Colobran Creator: LaTeX with hyperref package + hypdvips Producer: dvips + MiKTeX GPL Ghostscript 9.0 CreationDate: Sat Sep 28 07:36:26 2019 CEST ModDate: Sat Sep 28 07:41:32 2019 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 19 Encrypted: no Page size: 595.26 x 779.52 pts Page rot: 0 File size: 674726 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- QBWIYE+HelveticaNeueLTStd-MdIt Type 1C WinAnsi yes yes no 69 0 OGDJBP+HelveticaNeueLTStd-LtIt Type 1C Custom yes yes no 63 0 PIAOFJ+HelveticaNeueLTStd-BdIt Type 1C WinAnsi yes yes no 61 0 OYYBQA+HelveticaNeueLTStd-Lt Type 1C Custom yes yes no 44 0 FPOQSE+HelveticaNeueLTStd-Bd Type 1C Custom yes yes no 39 0 WGRAHQ+MTSY 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over 350 disorders affecting development or function of the immune system. Keywords: primary immunodeficiencies, next generation sequencing, clinical exome sequencing, TruSight one sequencing panel, mutations, genetic variants Creator: LaTeX with hyperref package + hypdvips Producer: dvips + MiKTeX GPL Ghostscript 9.0 CreationDate: Sat Sep 28 08:06:26 CEST 2019 ModDate: Sat Sep 28 08:11:32 CEST 2019 ID: 0x2da18a2e400413b5ec82f4e677cf1f13, 0xd23f7fadae665c48a2e6a57c9f712b45 Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: RPXATU+MinionPro-It FontSubset: true FirstChar: 2 LastChar: 243 FontDescriptor: FontName: RPXATU+MinionPro-It Flags: Symbolic FontBBox: -142, -257, 1003, 712 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: QBWIYE+HelveticaNeueLTStd-MdIt FontSubset: true FirstChar: 42 LastChar: 250 FontDescriptor: FontName: QBWIYE+HelveticaNeueLTStd-MdIt Flags: Symbolic FontBBox: -133, -218, 891, 731 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: CQMVCE+MinionPro-Bold FontSubset: true FirstChar: 3 LastChar: 121 FontDescriptor: FontName: CQMVCE+MinionPro-Bold Flags: Symbolic FontBBox: -7, -245, 823, 703 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: FPOQSE+HelveticaNeueLTStd-Bd FontSubset: true FirstChar: 0 LastChar: 124 FontDescriptor: FontName: FPOQSE+HelveticaNeueLTStd-Bd Flags: Serif, Symbolic FontBBox: -9, -214, 848, 786 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: OOOFRZ+HelveticaNeueLTStd-Md FontSubset: true FirstChar: 35 LastChar: 151 FontDescriptor: FontName: OOOFRZ+HelveticaNeueLTStd-Md Flags: Nonsymbolic FontBBox: -8, -205, 938, 731 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: WGRAHQ+MTSY FontSubset: true FirstChar: 2 LastChar: 112 FontDescriptor: FontName: WGRAHQ+MTSY Flags: Symbolic FontBBox: 0, -954, 867, 668 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: OBAZBH+RMTMI FontSubset: true FirstChar: 60 LastChar: 62 FontDescriptor: FontName: OBAZBH+RMTMI Flags: Nonsymbolic, AllCap FontBBox: 0, 0, 683, 455 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: PPSKEF+MTGU FontSubset: true FirstChar: 97 LastChar: 107 FontDescriptor: FontName: PPSKEF+MTGU Flags: Symbolic FontBBox: 0, -206, 519, 683 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: WLRXMJ+MinionPro-Regular FontSubset: true FirstChar: 2 LastChar: 246 FontDescriptor: FontName: WLRXMJ+MinionPro-Regular Flags: Symbolic FontBBox: -26, -257, 956, 713 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: OYYBQA+HelveticaNeueLTStd-Lt FontSubset: true FirstChar: 0 LastChar: 239 FontDescriptor: FontName: OYYBQA+HelveticaNeueLTStd-Lt Flags: Symbolic FontBBox: -30, -214, 904, 786 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: PIAOFJ+HelveticaNeueLTStd-BdIt FontSubset: true FirstChar: 42 LastChar: 121 FontDescriptor: FontName: PIAOFJ+HelveticaNeueLTStd-BdIt Flags: Nonsymbolic FontBBox: -63, -182, 717, 731 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: OGDJBP+HelveticaNeueLTStd-LtIt FontSubset: true FirstChar: 0 LastChar: 246 FontDescriptor: FontName: OGDJBP+HelveticaNeueLTStd-LtIt Flags: Symbolic FontBBox: -137, -206, 978, 729 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true XMP: dvips + MiKTeX GPL Ghostscript 9.0 primary immunodeficiencies, next generation sequencing, clinical exome sequencing, TruSight one sequencing panel, mutations, genetic variants 2019-09-28T11:11:32+05:30 2019-09-28T11:06:26+05:30 LaTeX with hyperref package + hypdvips 2019-09-28T11:11:32+05:30 69d145e9-e40d-11e9-0000-d27b97d2da6f uuid:85751aa4-0fab-4814-bb16-ed3e173a9e30 application/pdf Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Roger Colobran Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. primary immunodeficiencies next generation sequencing clinical exome sequencing TruSight one sequencing panel mutations genetic variants Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 43, 719, 161, 755 Annotation: Subtype: Link Rect: 474, 736, 551, 744 Annotation: Subtype: Link Rect: 464, 728, 507, 736 Annotation: Subtype: Link Rect: 507, 729, 533, 736 Annotation: Subtype: Link Rect: 533, 728, 551, 736 Annotation: Subtype: Link Rect: 451, 720, 551, 728 Annotation: Subtype: Link Rect: 521, 678, 551, 709 Annotation: Subtype: Link Rect: 43, 30, 117, 38 Annotation: Subtype: Link Rect: 120, 30, 180, 38 Annotation: Subtype: Link Rect: 428, 29, 551, 38 Annotation: Subtype: Link Rect: 87, 527, 160, 537 Annotation: Subtype: Link Rect: 89, 380, 160, 387 Annotation: Subtype: Link Rect: 74, 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Rect: 120, 29, 180, 37 Annotation: Subtype: Link Rect: 428, 29, 551, 38 Page: Label: 12 Sequence: 12 Annotations: Annotation: Subtype: Link Rect: 154, 708, 165, 720 Destination: External Annotation: Subtype: Link Rect: 172, 708, 183, 720 Destination: External Annotation: Subtype: Link Rect: 274, 628, 285, 640 Destination: External Annotation: Subtype: Link Rect: 216, 605, 227, 617 Destination: External Annotation: Subtype: Link Rect: 47, 213, 139, 224 Destination: External Annotation: Subtype: Link Rect: 174, 169, 185, 181 Destination: External Annotation: Subtype: Link Rect: 162, 66, 173, 78 Destination: External Annotation: Subtype: Link Rect: 349, 685, 360, 697 Destination: External Annotation: Subtype: Link Rect: 493, 662, 504, 674 Destination: External Annotation: Subtype: Link Rect: 507, 662, 518, 674 Destination: External Annotation: Subtype: Link Rect: 477, 628, 488, 640 Destination: External Annotation: Subtype: Link Rect: 361, 594, 372, 605 Destination: External Annotation: Subtype: Link Rect: 371, 307, 382, 318 Destination: External Annotation: Subtype: Link Rect: 534, 295, 546, 307 Destination: External Annotation: Subtype: Link Rect: 450, 238, 461, 250 Destination: External Annotation: Subtype: Link Rect: 367, 169, 378, 181 Destination: External Annotation: Subtype: Link Rect: 43, 29, 117, 37 Annotation: Subtype: Link Rect: 120, 29, 180, 37 Annotation: Subtype: Link Rect: 428, 29, 551, 38 Page: Label: 13 Sequence: 13 Annotations: Annotation: Subtype: Link Rect: 258, 524, 269, 536 Destination: External Annotation: Subtype: Link Rect: 129, 387, 140, 398 Destination: External Annotation: Subtype: Link Rect: 144, 387, 155, 398 Destination: External Annotation: Subtype: Link Rect: 422, 594, 433, 605 Destination: External Annotation: Subtype: Link Rect: 430, 548, 441, 559 Destination: External Annotation: Subtype: Link Rect: 519, 502, 530, 514 Destination: External Annotation: Subtype: Link Rect: 534, 502, 546, 514 Destination: External Annotation: Subtype: 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d9a76aa1697517c3fe68919e8669ce54 Type: MD5 Checksum: ed945ebad45b4746579f7af4d1fb0b6de9703310 Type: SHA-1