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

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.

Further Publications Immunology

Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study

J Allergy Clin Immunol

Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman A, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinoza Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG

doi: 10.1016/j.jaci.2020.09.010

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

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

Clin Exp Immunol.

Dasouki M, Jabr A, AlDakheel G, Elbadaoui F, Alazami AM, Al-Saud B, Arnaout R, Aldhekri H, Alotaibi I, Al-Mousa H, Hawwari A

doi: 10.1111/cei.13484.

Immunodeficiency

Adverse reactions in a large cohort of patients with inborn errors of immunity receiving intravenous immunoglobulin

Clin Immunol

Esmaeilzadeh H, Askarisarvestani A, Hosseini N, Samimi S, Shafiei A, Mahdaviani SA, Eslami N, Chavoshzadeh Z, Fallahi M, Khakbazanfard N, Shabestari MS, Aleyasin S, Nabavizadeh SH, Cheraghi T, Kalantari A, Ahmadiafshar A, Safari M, Eslamian MH, Molatefi R, Shirkani A, Heidarzadeh M, Tavakol M, Bemanian MH, Arshi S, Nabavi M, Shokri S, Shahhosseini B, Mortazavi N, Nakhaei P, Nazari F, Fallahpour M, Ahanchian H, Moazzen N, Khoshkhui M, Motlagh AV, Aghamohammadi A, Abolhassani H, Yazdani R, Rezaei N

doi: 10.1016/j.clim.2021.108826

Further Publications Immunology

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study

J Clin Immunol

Goudouris ES, Pinto-Mariz F, Mendonça LO, Aranda CS, Guimarães RR, Kokron C, Barros MT, Anísio F, Alonso MLO, Marcelino F, Valle SOR, Junior SD, Barreto IDP, Ferreira JFS, Roxo-Junior P, do Rego Silva AM, Campinhos FL, Bonfim C, Loth G, Fernandes JF, Garcia JL, Capelo A, Takano OA, Nadaf MIV, Toledo EC, Cunha LAO, Di Gesu RSW, Schidlowski L, Fillipo P, Bichuetti-Silva DC, Soldateli G, Ferraroni NR, de Oliveira Dantas E, Pestana S, Mansour E, Ulaf RG, Prando C, Condino-Neto A, Grumach AS

doi: 10.1007/s10875-021-01066-8

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

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

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

J Clin Immunol.

Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, Simon AJ, Lev A, Ma CA, Sun G, Blackstone SA, Milner JD, Somech R, Stauber T

doi: 10.1007/s10875-019-00629-0.

Related content

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

Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study

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

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

Adverse reactions in a large cohort of patients with inborn errors of immunity receiving intravenous immunoglobulin

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study

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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire