Severe combined immunodeficiency

Common Name(s)

Severe combined immunodeficiency

Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by defects in both T cells and B cells. SCID causes a high susceptibility to life-threatening infections and failure to thrive. Without treatment, people with SCID do not tend to live past early childhood. Two common types of SCID include: 

X-linked SCID Adenosine deaminase deficiency (ADA-SCID)
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe combined immunodeficiency" for support, advocacy or research.

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

Last Updated: 27 Aug 2015

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SCID, Angels for Life Foundation

Our mission is to increase awareness, benefit research, and provide parent and family education for those affected by SCID.

Last Updated: 20 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe combined immunodeficiency" for support, advocacy or research.

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

http://www.primaryimmune.org

Last Updated: 27 Aug 2015

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SCID, Angels for Life Foundation

Our mission is to increase awareness, benefit research, and provide parent and family education for those affected by SCID.

http://www.SCIDAngelsforlife.com

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Severe combined immunodeficiency" returned 357 free, full-text research articles on human participants. First 3 results:

Medical Devices; Immunology and Microbiology Devices; Classification of the Newborn Screening Test for Severe Combined Immunodeficiency Disorder. Final order.
 

Author(s):

Journal: Fed Regist. 2017 Oct;82(208):50077-80.

 

The Food and Drug Administration (FDA or we) is classifying the newborn screening test for severe combined immunodeficiency disorder (SCID) into class II (special controls). The special controls that apply to the device type are identified in this order and will be part of the codified ...

Last Updated: 31 Dec 1969

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Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency.
 

Author(s): Y J Shim, J S Ha

Journal: J Investig Allergol Clin Immunol. 2017 Jun;27(3):187-189.

 

Last Updated: 31 Dec 1969

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Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
 

Author(s): Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, Anna Gruca, Agnieszka Grabowska, Marzena Lenart, Marta Surman, Elżbieta Trzyna, Anna Mordel, Anna Pituch-Noworolska, Maciej Siedlar

Journal: Arch. Immunol. Ther. Exp. (Warsz.). 2016 Dec;64(Suppl 1):177-183.

 

Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Severe combined immunodeficiency" returned 23 free, full-text review articles on human participants. First 3 results:

Severe combined immunodeficiency: From its discovery to the perspective.
 

Author(s): Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2017 ;40(3):145-154.

 

Severe combined immunodeficiency (SCID) is impaired in lymphocyte development and function. Affected children have extreme susceptibility to infections, which are fatal in the first year of life without treatment. The estimate of incidence is one in approximately 50,000 live birth. ...

Last Updated: 31 Dec 1969

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Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
 

Author(s): Marina Cavazzana, Emmanuelle Six, Chantal Lagresle-Peyrou, Isabelle André-Schmutz, Salima Hacein-Bey-Abina

Journal: Hum. Gene Ther.. 2016 Feb;27(2):108-16.

 

More than 20 years ago, X-linked severe combined immunodeficiency (SCID-X1) appeared to be the best condition to test the feasibility of hematopoietic stem cell gene therapy. The seminal SCID-X1 clinical studies, based on first-generation gammaretroviral vectors, demonstrated good ...

Last Updated: 31 Dec 1969

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History and current status of newborn screening for severe combined immunodeficiency.
 

Author(s): Antonia Kwan, Jennifer M Puck

Journal: Semin. Perinatol.. 2015 Apr;39(3):194-205.

 

The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency
 

Status: Not yet recruiting

Condition Summary: Severe Combined Immunodeficiency

 

Last Updated: 19 Oct 2017

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Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency; Neonatal Screening

 

Last Updated: 27 Feb 2017

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Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency Disease, X-linked

 

Last Updated: 2 Nov 2017

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