Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

Immunodeficiency

Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency

J Allergy Clin Immunol.

Platt CD, Zaman F, Bainter W, Stafstrom K, Almutairi A, Reigle M, Weeks S, Geha RS, Chou J, International Consortium for Immunodeficiencies

doi: 10.1016/j.jaci.2020.08.022.

Immunodeficiency

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Nature.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Primary Immunodeficiency Consortium for the NIHR Bioresource., Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC

doi: 10.1038/s41586-020-2265-1.

Further Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

J Clin Immunol.

Okano T, Imai K, Naruto T, Okada S, Yamashita M, Yeh TW, Ono S, Tanaka K, Okamoto K, Tanita K, Matsumoto K, Toyofuku E, Kumaki-Matsumoto E, Okamura M, Ueno H, Ogawa S, Ohara O, Takagi M, Kanegane H, Morio T

doi: 10.1007/s10875-020-00798-3.

Immunodeficiency

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

J Clin Immunol.

Yska HAF, Elsink K, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM

doi: 10.1007/s10875-019-

Immunodeficiency

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

J Allergy Clin Immunol.

Mensa-Vilaró A, García-Morato MB, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Bravo Gallego LY, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI

doi: 10.1016/j.jaci.2018.09.009.

Dynamical system modeling to simulate donor T cell response to whole exome sequencing-derived recipient peptides: Understanding randomness in alloreactivity incidence following stem cell transplantation

PLoS One.

Koparde V, Abdul Razzaq B, Suntum T, Sabo R, Scalora A, Serrano M, Jameson-Lee M, Hall C, Kobulnicky D, Sheth N, Feltz J, Contaifer D Jr, Wijesinghe D, Reed J, Roberts C, Qayyum R, Buck G, Neale M, Toor A

doi: 10.1371/

Immunodeficiency

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019)

J Clin Immunol.

Lougaris V, Pession A, Baronio M, Soresina A, Rondelli R, Gazzurelli L, Benvenuto A, Martino S, Gattorno M, Biondi A, Zecca M, Marinoni M, Fabio G, Aiuti A, Marseglia G, Putti MC, Agostini C, Lunardi C, Tommasini A, Bertolini P, Gambineri E, Consolini R, Matucci A, Azzari C, Danieli MG, Paganelli R, Duse M, Cancrini C, Moschese V, Chessa L, Spadaro G, Civino A, Vacca A, Cardinale F, Martire B, Carpino L, Trizzino A, Russo G, Cossu F, Badolato R, Pietrogrande MC, Quinti I, Rossi P, Ugazio A, Pignata C, Plebani A

doi: 10.1007/s10875-020-00844-0.

Melanoma and Skin CancerImmunodeficiency

Association of Multiple Primary Skin Cancers With Human Immunodeficiency Virus Infection, CD4 Count, and Viral Load

JAMA Dermatol.

Asgari MM, Ray GT, Quesenberry CP Jr, Katz KA, Silverberg MJ

doi: 10.1001/

Immunodeficiency

An update on gain-of-function mutations in primary immunodeficiency diseases

Curr Opin Allergy Clin Immunol.

Jhamnani RD, Rosenzweig SD

doi: 10.1097/

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Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

Dynamical system modeling to simulate donor T cell response to whole exome sequencing-derived recipient peptides: Understanding randomness in alloreactivity incidence following stem cell transplantation

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019)

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