What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency

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Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

J Allergy Clin Immunol.

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doi: 10.1016/j.jaci.2018.08.024.

Immunodeficiency

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

J Clin Immunol.

Audrain MAP, Léger AJC, Hémont CAF, Mirallié SM, Cheillan D, Rimbert MGM, Le Thuaut AM, Sébille-Rivain VA, Prat A, Pinel EMQ, Divry E, Dert CGL, Fournier MAG, Thomas CJC

doi: 10.1007/s10875-

Immunodeficiency

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned

Immunol Allergy Clin North Am.

Dorsey MJ, Puck JM

doi: 10.1016/j.iac.2018.08.002.

Immunodeficiency

Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots

J Paediatr Child Health.

Richards S, Pitt J, Choo S

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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

Survey of Infection Control Precautions for Patients with Severe Combined Immune Deficiency

J Clin Immunol.

Dergousoff BA, Vayalumkal JV, Wright NAM

doi: 10.1007/s10875-019-00671-y.

Immunodeficiency

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

J Allergy Clin Immunol

Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M

doi: 10.1016/j.jaci.2021.08.026

Immunodeficiency

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Front Immunol.

Argudo-Ramírez A, Martín-Nalda A, Marín-Soria JL, López-Galera RM, Pajares-García S, González de Aledo-Castillo JM, Martínez-Gallo M, García-Prat M, Colobran R, Riviere JG, Quintero Y, Collado T, García-Villoria J, Ribes A, Soler-Palacín P

doi: 10.3389/fimmu.2019.02406.

Immunodeficiency

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Front Immunol.

Cirillo E, Cancrini C, Azzari C, Martino S, Martire B, Pession A, Tommasini A, Naviglio S, Finocchi A, Consolini R, Pierani P, D'Alba I, Putti MC, Marzollo A, Giardino G, Prencipe R, Esposito F, Grasso F, Scarselli A, Di Matteo G, Attardi E, Ricci S, Montin D, Specchia F, Barzaghi F, Cicalese MP, Quaremba G, Lougaris V, Giliani S, Locatelli F, Rossi P, Aiuti A, Badolato R, Plebani A, Pignata C

doi: 10.3389/fimmu.2019.01908.

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Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned

Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots

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

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Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network