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 363 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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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
 

Author(s): Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bouron-Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau

Journal: J. Bone Miner. Res.. 2017 Sep;32(9):1853-1859.

 

Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in ...

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

Long term outcomes of severe combined immunodeficiency: therapy implications.
 

Author(s): Jennifer Heimall, Morton J Cowan

Journal: Expert Rev Clin Immunol. 2017 11;13(11):1029-1040.

 

Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a ...

Last Updated: 31 Dec 1969

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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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Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
 

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

Journal: Biol. Blood Marrow Transplant.. 2017 Aug;23(8):1229-1240.

 

Severe combined immunodeficiency (SCID) is effectively treated with hematopoietic cell transplantation (HCT), with overall survival approaching 90% in contemporary reports. However, survivors are at risk for developing late complications because of the variable durability of high-quality ...

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: 17 Sep 2018

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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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