Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

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

Precision medicine in the treatment of primary immunodeficiency diseases

Curr Opin Allergy Clin Immunol.

Leiding JW, Ballow M

doi: 10.1097/

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

Inflammatory Bowel Disease in Chronic Granulomatous Disease: an emerging problem over a twenty years' experience

Pediatr Allergy Immunol.

Angelino G, De Angelis P, Faraci S, Rea F, Romeo EF, Torroni F, Tambucci R, Claps A, Francalanci P, Chiriaco M, Di Matteo G, Cancrini C, Palma P, D'Argenio P, Dall'Oglio L, Rossi P, Finocchi A

doi: 10.1111/pai.12814.

Immunodeficiency

Exercise Perception and Behaviors in Individuals Living with Primary Immunodeficiency Disease

J Clin Immunol.

Sowers KL, Litwin BA, Lee ACW, Galantino MLA

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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

Fungal infections in primary immunodeficiency diseases

Clin Immunol.

Elaziz DA, El-Ghany MA, Meshaal S, El Hawary R, Lotfy S, Galal N, Ouf SA, Elmarsafy A

doi: 10.1016/j.clim.2020.108553.

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.

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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

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