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

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
 

Author(s): Divya Punwani, Yong Zhang, Jason Yu, Morton J Cowan, Sadhna Rana, Antonia Kwan, Aashish N Adhikari, Carlos O Lizama, Bryce A Mendelsohn, Shawn P Fahl, Ajithavalli Chellappan, Rajgopal Srinivasan, Steven E Brenner, David L Wiest, Jennifer M Puck

Journal: N. Engl. J. Med.. 2016 Dec;375(22):2165-2176.

 

Background Severe combined immunodeficiency (SCID) is characterized by arrested T-lymphocyte production and by B-lymphocyte dysfunction, which result in life-threatening infections. Early diagnosis of SCID through population-based screening of newborns can aid clinical management ...

Last Updated: 13 Dec 2016

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Antitumor efficacy of lidamycin against human multiple myeloma RPMI 8226 cells and the xenograft in nonobese diabetic/severe combined immunodeficiency mice.
 

Author(s): Yongzhan Zhen, Boyang Shang, Xiujun Liu, Yajun Lin, Yongsu Zhen

Journal: J Cancer Res Ther. ;12(1):182-7.

 

The aim of this study is to explore the antitumor efficacy of lidamycin (LDM) against human multiple myelomas (MM).

Last Updated: 13 Apr 2016

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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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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 20 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 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

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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Generalized Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency, Atypical

 

Last Updated: 12 Sep 2016

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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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