Splenic Hypoplasia

A rare hereditary autosomal dominant cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably HETEROTAXY SYNDROMES such as Ivemark syndrome. Mutations in the RPSA gene have been identified. OMIM: 271400

Also Known As:

Networked: 3 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pneumococcal Infections
2.	Chromosomal Instability (Chromosome Stability)
3.	Thymus Hyperplasia

Experts

1.	Ato, Fuminori: 1 article (01/2020)
2.	Hanamura, Ichiro: 1 article (01/2020)
3.	Horio, Tomohiro: 1 article (01/2020)
4.	Kanasugi, Jo: 1 article (01/2020)
5.	Matsumura, Saori: 1 article (01/2020)
6.	Mizuno, Shohei: 1 article (01/2020)
7.	Murakami, Satsuki: 1 article (01/2020)
8.	Nakamura, Ayano: 1 article (01/2020)
9.	Takami, Akiyoshi: 1 article (01/2020)
10.	Takasugi, Soichi: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Splenic Hypoplasia:

1.	Pneumococcal Vaccines (Pneumococcal Polysaccharide Vaccine)IBA 06/10/2013 - "[Case report; a recurrent case of fulminant pneumococcal infection due to splenic hypoplasia under use of pneumococcal vaccine]."
2.	Proteins (Proteins, Gene)FDA Link 04/01/2011 - "Pttg1 is a transcription regulatory protein involved in sister chromatid segregation, and Pttg1(-/-) mice exhibit testicular and splenic hypoplasia, thymic hyperplasia, aberrant cell cycle progression, chromosome instability, and impaired glucose homeostasis leading to diabetes, particularly in older males. "
3.	Glucose (Dextrose)FDA LinkGeneric 04/01/2011 - "Pttg1 is a transcription regulatory protein involved in sister chromatid segregation, and Pttg1(-/-) mice exhibit testicular and splenic hypoplasia, thymic hyperplasia, aberrant cell cycle progression, chromosome instability, and impaired glucose homeostasis leading to diabetes, particularly in older males. "

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "Antibacterial therapy was initiated and the pneumococcal infection was cured; however, there was no notable change in his splenic hypoplasia. "