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

Immunodeficiency

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

Clin Immunol.

Simon AJ, Golan AC, Lev A, Stauber T, Barel O, Somekh I, Klein C, AbuZaitun O, Eyal E, Kol N, Unal E, Amariglio N, Rechavi G, Somech R

doi: 10.1016/j.clim.2020.108376.

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.

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

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology

J Allergy Clin Immunol.

Chinn IK, Chan A, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM 3rd, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg ND, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE

doi: 10.1016/j.jaci.2019.09.009.

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.

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/

Psoriatic Arthritis

Multicentre, randomised, open-label, parallel-group study evaluating the efficacy and safety of ixekizumab versus adalimumab in patients with psoriatic arthritis naïve to biological disease-modifying antirheumatic drug: final results by week 52

Ann Rheum Dis.

Smolen JS, Mease P, Tahir H, Schulze-Koops H, de la Torre I, Li L, Hojnik M, Sapin C, Okada M, Caporali R, Gratacós J, Goupille P, Liu Leage S, Pillai S, Nash P

doi: 10.1136/annrheumdis-2020-217372.

Immunodeficiency

Differing Performance of the Warning Signs for Immunodeficiency in the Diagnosis of Pediatric Versus Adult Patients in a Two-Center Tertiary Referral Population

J Clin Immunol.

Bjelac JA, Yonkof JR, Fernandez J

doi: 10.1007/s10875-018-0582-z.

Immunodeficiency

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature

J Eur Acad Dermatol Venereol.

Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C

doi: 10.1111/jdv.15568.

Related content

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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology

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

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

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Differing Performance of the Warning Signs for Immunodeficiency in the Diagnosis of Pediatric Versus Adult Patients in a Two-Center Tertiary Referral Population

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature