Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

Immunodeficiency

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

J Clin Immunol

Fusaro M, Vincent A, Castelle M, Rosain J, Fournier B, Veiga-da-Cunha M, Kentache T, Serre J, Fallet-Bianco C, Delezoide AL, Renesme L, Picard FM, Lasseaux E, Aladjidi N, Seta N, Cormier-Daire V, Schaftingen EV, Neven B, Moshous D, Blesson S, Picard C

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Immunodeficiency

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C

Clin Immunol.

Sundin M, Marits P, Ramme K, Kolios AGA, Nilsson J

doi: 10.1016/j.clim.2018.12.019.

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.

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.

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

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

Curr Opin Allergy Clin Immunol.

Jhamnani RD, Rosenzweig SD

doi: 10.1097/

Autoimmune Disease

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant

Rheumatology (Oxford).

Herlin T, Jørgensen SE, Høst C, Mitchell PS, Christensen MH, Laustsen M, Larsen DA, Schmidt FI, Christiansen M, Mogensen TH

doi: 10.1093/rheumatology/kez612.

Immunodeficiency

Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency

Clin Immunol.

von Spee-Mayer C, Koemm V, Wehr C, Goldacker S, Kindle G, Bulashevska A, Proietti M, Grimbacher B, Ehl S, Warnatz K

doi: 10.1016/j.clim.2019.04.001.

Immunodeficiency

Defective SEC61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

J Allergy Clin Immunol.

Van Nieuwenhove E, Barber JS, Neumann J, Smeets E, Willemsen M, Pasciuto E, Prezzemolo T, Lagou V, Seldeslachts L, Malengier-Devlies B, Metzemaekers M, Haßdenteufel S, Kerstens A, van der Kant R, Rousseau F, Schymkowitz J, Di Marino D, Lang S, Zimmermann R, Schlenner S, Munck S, Proost P, Matthys P, Devalck C, Boeckx N, Claessens F, Wouters C, Humblet-Baron S, Meyts I, Liston A

doi: 10.1016/j.jaci.2020.03.034.

Related content

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C

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

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

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