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:
Asplenia, Familial; Hyposplenia, Isolated Congenital
Networked: 3
relevant articles (1 outcomes,
0 trials/studies)
Relationship Network
Disease Context: Research Results
Related Diseases
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:
Therapies and Procedures