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:

Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
 

Author(s): Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, Anna Gruca, Agnieszka Grabowska, Marzena Lenart, Marta Surman, Elżbieta Trzyna, Anna Mordel, Anna Pituch-Noworolska, Maciej Siedlar

Journal: Arch. Immunol. Ther. Exp. (Warsz.). 2016 Dec;64(Suppl 1):177-183.

 

Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies ...

Last Updated: 13 Jan 2017

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NK cells are intrinsically functional in pigs with Severe Combined Immunodeficiency (SCID) caused by spontaneous mutations in the Artemis gene.
 

Author(s): Ellis J Powell, Joan E Cunnick, Susan M Knetter, Crystal L Loving, Emily H Waide, Jack C M Dekkers, Christopher K Tuggle

Journal: Vet. Immunol. Immunopathol.. 2016 Jul;175():1-6.

 

We have identified Severe Combined Immunodeficiency (SCID) in a line of Yorkshire pigs at Iowa State University. These SCID pigs lack B-cells and T-cells, but possess Natural Killer (NK) cells. This SCID phenotype is caused by recessive mutations in the Artemis gene. Interestingly, ...

Last Updated: 9 Jun 2016

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Neonatal screening for severe combined immunodeficiency in Brazil.
 

Author(s): Marilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes Dos Santos, Newton Bellesi, Beatriz Tavares Costa-Carvalho, Antonio Condino-Neto

Journal: J Pediatr (Rio J). ;92(4):374-80.

 

To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil.

Last Updated: 25 Jul 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 21 free, full-text review articles on human participants. First 3 results:

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: 18 Feb 2016

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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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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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Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency; Neonatal Screening

 

Last Updated: 27 Feb 2017

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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: 11 Apr 2017

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