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:

[[File:SBDS-protein.png|thumb|SBDS gene
 * 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 charcteristics 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 demonstrably increased in the bone marrow

Related Articles

 * Primary immunodeficiency
 * Phagocytosis