Shwachman-Diamond's syndrome
Shwachman-Diamond's Syndrome (Shwachman-Bodian-Diamond Syndrome, SDS, Congenital Pancreatic Lipomatosis; OMIM: 260400 ) is a complex syndrome caused by a mutation in the SBDS gene in the 7q11 region and manifestations including:
| Cause | mutation of gene SBDS in region 7q11 |
|---|---|
| Clasification and references | |
| MeSH ID | C537330 |
| OMIM | 260400 |
| orphanet | ORPHA811 |
| Medscape | 958476 |
- Disorder of the exocrine part of the pancreas (the exocrine part of the pancreas is replaced by fat, but the endocrine part - Langerhans cells - is normal)
- Skeletal abnormalities
- Abnormalities of a hematological nature
An increased risk of cancer, especially leukemia, is being described. Heredity of this mutation has an autosomal recessive character.
From an immunological point of view, these characteristics are present:
- Neutropenia
- Disorders of chemotaxis in polymorphonuclear leukocytes (phagocytosis dysfunction)
- Absolute lymphocyte count is normal, but the percentage of B-lymphocytes may be low or show different defects
- Thrombocytopenia is also relatively common
- Apoptosis is increased in the bone marrow
References
Related Articles
Sources
- ŠÍPEK, Antonín. Genetic disorders of the immune system [online]. [cit. 24. 12. 2009]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.
- BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. edition. Praha : Grada, 2002. pp. 228. ISBN 80-247-0244-4.
Portal: Genetics
