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

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

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.

Immunodeficiency

A Systematic Review and Meta-regression Analysis on the Impact of Increasing IgG Trough Level on Infection Rates in Primary Immunodeficiency Patients on Intravenous IgG Therapy

J Clin Immunol.

Lee JL, Mohamed Shah N, Makmor-Bakry M, Islahudin FH, Alias H, Noh LM, Mohd Saffian S

doi: 10.1007/s10875-020-00788-5.

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

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.

Immunodeficiency

Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine-derived complications: a systematic review

J Allergy Clin Immunol Pract.

Fekrvand S, Yazdani R, Olbrich P, Gennery A, Rosenzweig SD, Condino-Neto A, Azizi G, Rafiemanesh H, Hassanpour G, Rezaei N, Abolhassani H, Aghamohammadi A

doi: 10.1016/j.jaip.2020.01.038.

Immunodeficiency

Clinical, Immunological and Genetic findings in Patients with UNC13D Deficiency (FHL3): a Systematic Review

Pediatr Allergy Immunol.

Amirifar P, Ranjouri MR, Abolhassani H, Moeini Shad T, Almasi-Hashiani A, Azizi G, Moamer S, Aghamohammadi A, Yazdani R

doi: 10.1111/pai.13323.

Immunodeficiency

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

Curr Opin Allergy Clin Immunol.

Jhamnani RD, Rosenzweig SD

doi: 10.1097/

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.

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

A Systematic Review and Meta-regression Analysis on the Impact of Increasing IgG Trough Level on Infection Rates in Primary Immunodeficiency Patients on Intravenous IgG Therapy

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