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

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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 340 free, full-text research articles on human participants. First 3 results:

Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency.
 

Author(s): T Wada, Toma T, M Yasui, M Inoue, K Kawa, K Imai, T Morio, A Yachie

Journal: J Investig Allergol Clin Immunol. 2016 ;26(1):63-5.

 

Last Updated: 25 Mar 2016

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Modeling Human Severe Combined Immunodeficiency and Correction by CRISPR/Cas9-Enhanced Gene Targeting.
 

Author(s): Chia-Wei Chang, Yi-Shin Lai, Erik Westin, Alireza Khodadadi-Jamayran, Kevin M Pawlik, Lawrence S Lamb, Frederick D Goldman, Tim M Townes

Journal: Cell Rep. 2015 Sep;12(10):1668-77.

 

Mutations of the Janus family kinase JAK3 gene cause severe combined immunodeficiency (SCID). JAK3 deficiency in humans is characterized by the absence of circulating T cells and natural killer (NK) cells with normal numbers of poorly functioning B cells (T(-)B(+)NK(-)). Using SCID ...

Last Updated: 10 Sep 2015

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Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency.
 

Author(s): Y Hara, N Kobayashi, Y Maruyama, M Motobayashi, T Shigemura, O Ohara, K Agematsu, K Koike

Journal: J Investig Allergol Clin Immunol. 2015 ;25(4):313-5.

 

Last Updated: 27 Aug 2015

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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 19 free, full-text review articles on human participants. First 3 results:

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: 18 May 2015

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TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
 

Author(s): Jet van der Spek, Rolf H H Groenwold, Mirjam van der Burg, Joris M van Montfrans

Journal: J. Clin. Immunol.. 2015 May;35(4):416-30.

 

Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based SCID screening were reported.

Last Updated: 20 May 2015

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Gene therapy studies in a canine model of X-linked severe combined immunodeficiency.
 

Author(s): Peter J Felsburg, Suk See De Ravin, Harry L Malech, Brian P Sorrentino, Christopher Burtner, Hans-Peter Kiem

Journal: Hum Gene Ther Clin Dev. 2015 Mar;26(1):50-6.

 

Since the occurrence of T cell leukemias in the original human γ-retroviral gene therapy trials for X-linked severe combined immunodeficiency (XSCID), considerable effort has been devoted to developing safer vectors. This review summarizes gene therapy studies performed in a canine ...

Last Updated: 17 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Not yet recruiting

Condition Summary: Severe Combined Immunodeficiency; Neonatal Screening

 

Last Updated: 27 Oct 2015

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

Status: Not yet recruiting

Condition Summary: Severe Combined Immunodeficiency

 

Last Updated: 22 Aug 2016

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Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
 

Status: Recruiting

Condition Summary: X-linked Severe Combined Immunodeficiency; XSCID; SCID-X1; Gamma C-Deficient SCID

 

Last Updated: 9 Aug 2016

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