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 362 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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Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.
 

Author(s): Morna J Dorsey, Christopher C Dvorak, Morton J Cowan, Jennifer M Puck

Journal: J. Allergy Clin. Immunol.. 2017 Mar;139(3):733-742.

 

Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell development and is fatal without treatment. Newborn screening (NBS) for SCID permits identification of affected infants before development of opportunistic infections and other complications. Substantial ...

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 24 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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Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
 

Author(s): Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan

Journal: Biol. Blood Marrow Transplant.. 2017 Mar;23(3):379-387.

 

Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year ...

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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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 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: 29 Mar 2018

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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: 18 Jan 2018

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