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

Immunodeficiency

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

Curr Opin Allergy Clin Immunol.

Jhamnani RD, Rosenzweig SD

doi: 10.1097/

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Atopic Dermatitis

Loss-of-function mutations in CARD14 are associated with a severe variant of atopic dermatitis

doi: 10.1016/j.jaci.

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Allergic Diseases

Filaggrin loss of function mutations are a factor in patients with multiple contact allergies

Contact Dermatitis.

Elhaji Y, Sasseville D, Pratt M, Asai Y, Matheson K, McLean WHI, Hull P

doi: 10.1111/cod.13268.

Immunodeficiency

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

J Allergy Clin Immunol

Mandola AB, Sharfe N, Nagdi Z, Dadi H, Vong L, Merico D, Ngan B, Reid B, Roifman Cm CM

doi: 10.1016/j.jaci.2020.08.040

Immunodeficiency

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

J Allergy Clin Immunol Pract.

Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS

doi: 10.1016/j.jaip.2020.08.008.

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

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

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.

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

Related content

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

Loss-of-function mutations in CARD14 are associated with a severe variant of atopic dermatitis

Filaggrin loss of function mutations are a factor in patients with multiple contact allergies

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

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

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

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

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