Shwachman-Diamond syndrome

Shwachman-Diamond 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:

An increased risk of cancer, especially leukemia, is being described. Heredity of this mutation has an autosomal recessive character.
 * 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.

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

Source

 * ŠÍPEK, Antonín. Genetic disorders of the immune system  [online]. Last revision June 9, 2006, [cited. December 24, 2009]. < http://www.genetika-biologie.cz/primarni-imunodeficience >.