cf85d41bb1e6dee04ca5ff3ed80bf7a8 pdf_223391.pdf 8ee7d8873541684475ce2d75f295dfc929a398ca pdf_223391.pdf 10e662993d12bc027c58d22549210537de57136002a0b054e5a700e1edfcd1c3 pdf_223391.pdf Title: Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Subject: Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of 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 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: Tue Feb 23 15:44:22 2021 CET 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: 401346 bytes Optimized: yes PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- FPOQSE+HelveticaNeueLTStd-Bd Type 1C Custom yes yes no 461 0 OYYBQA+HelveticaNeueLTStd-Lt Type 1C Custom yes yes no 465 0 PIAOFJ+HelveticaNeueLTStd-BdIt Type 1C WinAnsi yes yes no 472 0 OGDJBP+HelveticaNeueLTStd-LtIt Type 1C Custom yes yes no 476 0 QBWIYE+HelveticaNeueLTStd-MdIt Type 1C WinAnsi yes yes no 480 0 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PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseOutlines Language: en Outlines: Item: Title: Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expec琀攀搀 愀渀搀 唀渀攀砀瀀攀挀琀攀搀 䘀椀渀搀椀渀最猩㸾൥湤潢樍㐹㐠〠潢樍㰼⽁捴楯港䝯呯⽄敳琯獥捴楯渪⸲⽎數琠㔰㘠〠刯偡牥湴‴㤳‰⁒⽔楴汥⣾＀䤀渀琀爀漀搀甀挀琀椀漀温㸾൥湤潢樍㐹㔠〠潢樍㰼⽁捴楯港䝯呯⽄敳琯獥捴楯渪⸲㘯偡牥湴‴㤳‰⁒⽐牥瘠㐹㘠〠刯呩瑬攨References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@ed9d034 Children: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6121c9d6 Item: Title: Materials and Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@87f383f Children: Item: Title: Patients and Samples Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4eb7f003 Item: Title: Clinical Exome Sequencing and Data Analysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@eafc191 Item: Title: Results and Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612fc6eb Children: Item: Title: Overall Sequencing Data and Results Summary Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1060b431 Item: Title: Patients With Mutations in PID Genes (2017 IUIS Classification) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Patients With Mutations in Genes Not Included in the PID Classification: Unexpected Findings Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Children: Item: Title: SKIV2L—Trichohepatoenteric Syndrome 2 (OMIM #614602) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: MMACHC—Methylmalonic Aciduria and Homocystinuria (OMIM #277400) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Item: Title: SLC27A4—Ichthyosis Prematurity Syndrome (OMIM #608649) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Item: Title: DSG1—Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE (OMIM #615508) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: DNAI2—Primary Ciliary Dyskinesia (OMIM #612444) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Item: Title: SIX6—Optic Disc Anomalies With Retinal and/or Macular Dystrophy (OMIM #212550) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: RECQL4—Rothmund-Thomson Syndrome (OMIM #268400) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Item: Title: Incomplete Genotypes and Variants of Uncertain Significance Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Genetic Findings Post-clinical Exome in Patients With Negative Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: Concluding Remarks Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: Data Availability Statement Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: Ethics Statement Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Item: Title: Author Contributions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4671e53b Item: Title: Funding Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2db7a79b Item: Title: Acknowledgments Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Item: Title: Supplementary Material Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@b7dd107 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@42eca56e Info: Title: Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Author: Roger Colobran Subject: Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of 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: Tue Feb 23 15:44:22 CET 2021 ID: 0x2da18a2e400413b5ec82f4e677cf1f13, 0x35d133f0d9e058418108f7e3f5f6a4d4 Filters: FilterPipeline: FlateDecode Fonts: Type1: 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: 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: 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: 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: 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: 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: 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: 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 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: 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: 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 XMP: dvips + MiKTeX GPL Ghostscript 9.0 primary immunodeficiencies, next generation sequencing, clinical exome sequencing, TruSight one sequencing panel, mutations, genetic variants 2021-02-23T15:44:22+01:00 2019-09-28T11:06:26+05:30 LaTeX with hyperref package + hypdvips 2021-02-23T15:44:22+01:00 69d145e9-e40d-11e9-0000-d27b97d2da6f uuid:1200b9a2-9d9e-4b67-b392-491e88f19408 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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139, 342 Destination: External Annotation: Subtype: Link Rect: 163, 170, 174, 181 Destination: External Annotation: Subtype: Link Rect: 273, 158, 289, 170 Destination: External Annotation: Subtype: Link Rect: 43, 147, 59, 158 Destination: External Annotation: Subtype: Link Rect: 410, 625, 492, 636 Destination: External Annotation: Subtype: Link Rect: 552, 74, 303, 99 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: 16 Sequence: 16 Annotations: Annotation: Subtype: Link Rect: 74, 661, 159, 668 Annotation: Subtype: Link Rect: 292, 622, 60, 641 Annotation: Subtype: Link Rect: 292, 575, 60, 593 Annotation: Subtype: Link Rect: 74, 528, 159, 536 Annotation: Subtype: Link Rect: 133, 498, 212, 507 Annotation: Subtype: Link Rect: 292, 461, 60, 480 Annotation: Subtype: Link Rect: 74, 422, 131, 431 Annotation: Subtype: Link Rect: 133, 385, 216, 394 Annotation: Subtype: Link Rect: 292, 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Subtype: Link Rect: 465, 167, 544, 176 Annotation: Subtype: Link Rect: 427, 139, 496, 148 Annotation: Subtype: Link Rect: 334, 91, 413, 100 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: 18 Sequence: 18 Annotations: Annotation: Subtype: Link Rect: 74, 697, 155, 706 Annotation: Subtype: Link Rect: 126, 670, 211, 678 Annotation: Subtype: Link Rect: 192, 642, 238, 649 Annotation: Subtype: Link Rect: 74, 602, 125, 611 Annotation: Subtype: Link Rect: 74, 574, 169, 583 Annotation: Subtype: Link Rect: 292, 535, 60, 556 Annotation: Subtype: Link Rect: 108, 498, 165, 508 Annotation: Subtype: Link Rect: 133, 460, 227, 470 Annotation: Subtype: Link Rect: 169, 432, 248, 441 Annotation: Subtype: Link Rect: 202, 396, 275, 403 Annotation: Subtype: Link Rect: 74, 356, 155, 366 Annotation: Subtype: Link Rect: 180, 339, 265, 346 Annotation: Subtype: Link Rect: 126, 311, 231, 318 Annotation: Subtype: Link Rect: 74, 281, 178, 289 Annotation: Subtype: Link Rect: 104, 252, 162, 261 Annotation: Subtype: Link Rect: 74, 214, 131, 223 Annotation: Subtype: Link Rect: 170, 176, 227, 185 Annotation: Subtype: Link Rect: 136, 159, 208, 166 Annotation: Subtype: Link Rect: 154, 131, 219, 138 Annotation: Subtype: Link Rect: 425, 697, 528, 706 Annotation: Subtype: Link Rect: 457, 661, 532, 668 Annotation: Subtype: Link Rect: 482, 631, 538, 640 Annotation: Subtype: Link Rect: 334, 594, 418, 602 Annotation: Subtype: Link Rect: 334, 557, 430, 564 Annotation: Subtype: Link Rect: 466, 517, 525, 526 Annotation: Subtype: Link Rect: 368, 479, 425, 489 Annotation: Subtype: Link Rect: 390, 432, 454, 441 Annotation: Subtype: Link Rect: 410, 404, 485, 413 Annotation: Subtype: Link Rect: 334, 356, 427, 365 Annotation: Subtype: Link Rect: 470, 329, 527, 337 Annotation: Subtype: Link Rect: 397, 290, 478, 299 Annotation: Subtype: Link Rect: 409, 254, 493, 261 Annotation: Subtype: Link Rect: 334, 215, 413, 223 Annotation: Subtype: Link Rect: 334, 177, 393, 186 Annotation: Subtype: Link Rect: 334, 139, 386, 148 Annotation: Subtype: Link Rect: 421, 101, 502, 110 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: 19 Sequence: 19 Annotations: Annotation: Subtype: Link Rect: 195, 699, 280, 706 Annotation: Subtype: Link Rect: 292, 650, 60, 669 Annotation: Subtype: Link Rect: 292, 611, 60, 631 Annotation: Subtype: Link Rect: 104, 583, 161, 593 Annotation: Subtype: Link Rect: 422, 632, 448, 639 Annotation: Subtype: Link Rect: 448, 632, 480, 639 Annotation: Subtype: Link Rect: 479, 632, 515, 640 Annotation: Subtype: Link Rect: 514, 632, 537, 639 Annotation: Subtype: Link Rect: 552, 621, 303, 641 Annotation: Subtype: Link Rect: 43, 29, 117, 37 Annotation: Subtype: Link Rect: 120, 29, 180, 37 Annotation: Subtype: Link Rect: 428, 29, 551, 38 Checksum: d7609761 Type: CRC32 Checksum: cf85d41bb1e6dee04ca5ff3ed80bf7a8 Type: MD5 Checksum: 8ee7d8873541684475ce2d75f295dfc929a398ca Type: SHA-1