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

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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Chitosan oligosaccharides in combination with Agaricus blazei Murill extract reduces hepatoma formation in mice with severe combined immunodeficiency.
 

Author(s): Ming-Yang Yeh, Hung-Sheng Shang, Hsu-Feng Lu, Jason Chou, Chun Yeh, Jin-Biou Chang, Hsiao-Fang Hung, Wan-Lin Kuo, Lung-Yuan Wu, Jing-Gung Chung

Journal: Mol Med Rep. 2015 Jul;12(1):133-40.

 

Chitosan and Agaricus blazei Murill (ABM) extracts possess antitumor activities. The aim of the present study was to investigate whether chitosan, ABM extract or the two in combination were effective against tumors in tumor‑bearing mice. The mice were subcutaneously injected with ...

Last Updated: 15 Apr 2015

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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
 

Author(s): Jennifer L Taylor, Francis K Lee, Golriz Khadem Yazdanpanah, John F Staropoli, Mei Liu, John P Carulli, Chao Sun, Steven F Dobrowolski, W Harry Hannon, Robert F Vogt

Journal: Clin. Chem.. 2015 Feb;61(2):412-9.

 

Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined ...

Last Updated: 29 Jan 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 17 free, full-text review articles on human participants. First 3 results:

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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Severe combined immunodeficiency mouse-psoriatic human skin xenograft model: a modern tool connecting bench to bedside.
 

Author(s): Smriti Kundu-Raychaudhuri, Ananya Datta-Mitra, Christine J Abria, John Peters, Siba P Raychaudhuri

Journal: Indian J Dermatol Venereol Leprol. ;80(3):204-13.

 

Psoriasis is a multifactorial chronic inflammatory disease. Research into the pathogenesis of this disease is hindered by the lack of a proper animal model. Over the past two decades, many scientists were involved in the development of animal models that nearly mirror the immunopathogenesis ...

Last Updated: 14 May 2014

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The long quest for neonatal screening for severe combined immunodeficiency.
 

Author(s): Rebecca H Buckley

Journal: J. Allergy Clin. Immunol.. 2012 Mar;129(3):597-604; quiz 605-6.

 

Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-depleted haploidentical ...

Last Updated: 5 Mar 2012

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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

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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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: 5 Feb 2016

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Generalized Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency, Atypical

 

Last Updated: 20 Jul 2015

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