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:

SBDS protein

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

• Primary immunodeficiency
• Phagocytosis

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