Asplenia

Common Name(s)

Asplenia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Asplenia" for support, advocacy or research.

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Heterotaxy Foundation

The Heterotaxy Foundation is a non-profit organization created to raise funds for research and promote awareness of a rare disease called Heterotaxy Syndrome.

Last Updated: 12 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Asplenia" for support, advocacy or research.

Logo
Heterotaxy Foundation

The Heterotaxy Foundation is a non-profit organization created to raise funds for research and promote awareness of a rare disease called Heterotaxy Syndrome.

http://www.heterotaxy.org

Last Updated: 12 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show 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 "Asplenia" returned 36 free, full-text research articles on human participants. First 3 results:

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
 

Author(s): Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Picard, Laurent Abel, Lluis Quintana-Murci, Saul N Faust, Anthony P Williams, Richard Baretto, Michael Duddridge, Usha Kini, Andrew J Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri, Jean-Laurent Casanova

Journal: Science. 2013 May;340(6135):976-8.

 

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 ...

Last Updated: 24 May 2013

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Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.
 

Author(s): Matthew Koss, Alexandre Bolze, Andrea Brendolan, Matilde Saggese, Terence D Capellini, Ekaterina Bojilova, Bertrand Boisson, Owen W J Prall, David A Elliott, Mark Solloway, Elisa Lenti, Chisa Hidaka, Ching-Pin Chang, Nizar Mahlaoui, Richard P Harvey, Jean-Laurent Casanova, Licia Selleri

Journal: Dev. Cell. 2012 May;22(5):913-26.

 

The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that Pbx1 deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic ...

Last Updated: 18 May 2012

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Antibody response to Haemophilus influenzae type-b conjugate vaccine in children and young adults with congenital asplenia or after undergoing splenectomy.
 

Author(s): B Mikoluc, R Motkowski, H Käyhty, E Heropolitanska-Pliszka, B Pietrucha, E Bernatowska

Journal: Eur. J. Clin. Microbiol. Infect. Dis.. 2012 May;31(5):805-9.

 

Absence of the spleen constitutes a risk of infection caused by encapsulated bacteria. The aim of our study was to determine the immune response to Haemophilus influenzae type-b (Hib) conjugate vaccine (HibCV) in asplenic individuals, considering the cause of asplenia, the age when ...

Last Updated: 5 Apr 2012

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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 "Asplenia" returned 1 free, full-text review articles on human participants. First 3 results:

[Congenital asplenia and pneumococcal purpura fulminans in a pediatric patient: case report with pathological findings and review].
 

Author(s): Katalina Bertrán S, Alejandro Donoso F, Pablo Cruces R, Franco Díaz R, Daniela Arriagada S

Journal: Rev Chilena Infectol. 2009 Feb;26(1):55-9.

 

Absent or defective splenic function is associated with a high risk of fulminant bacterial infections, especially due to encapsulated bacteria. Not knowing this condition may delay medical treatment. Streptococcus pneumoniae is the leading cause of sepsis in these patients. Asplenic ...

Last Updated: 7 Apr 2009

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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