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

Immunodeficiency

Precision medicine in the treatment of primary immunodeficiency diseases

Curr Opin Allergy Clin Immunol.

Leiding JW, Ballow M

doi: 10.1097/

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

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.

Immunodeficiency

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Front Immunol.

Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B

doi: 10.3389/fimmu.2019.00297.

Immunodeficiency

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients

Immunol Allergy Clin North Am.

Nunes-Santos CJ, Kuehn HS, Rosenzweig SD

doi: 10.1016/j.iac.2020.04.004.

Immunodeficiency

Exercise Perception and Behaviors in Individuals Living with Primary Immunodeficiency Disease

J Clin Immunol.

Sowers KL, Litwin BA, Lee ACW, Galantino MLA

doi: 10.1007/s10875-017-0472-9.

Further Publications Immunology

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation

J Clin Immunol

Kayaoglu B, Kasap N, Yilmaz NS, Charbonnier LM, Geckin B, Akcay A, Eltan SB, Ozturk G, Ozen A, Karakoc-Aydiner E, Chatila TA, Gursel M, Baris S

doi: 10.1007/s10875-020-00943-y

Immunodeficiency

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management

J Clin Immunol.

Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S

doi: 10.1007/s10875-020-00754-1.

Immunodeficiency

Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1

J Allergy Clin Immunol.

Cui Y, Keles S, Charbonnier LM, Julé AM, Henderson L, Celik SC, Reisli I, Shen C, Xie WJ, Schmitz-Abe K, Wu H, Chatila TA

doi: 10.1016/j.jaci.2019.10.004.

Related content

Precision medicine in the treatment of primary immunodeficiency diseases

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

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients

Exercise Perception and Behaviors in Individuals Living with Primary Immunodeficiency Disease

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management

Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1