Chediak-Higashi Syndrome

Chediak-Higashi Syndrome

TL;DR Chediak-Higashi syndrome is a rare, autosomal recessive genetic disorder characterized by defects in lysosomal trafficking. Cause: A mutation in the LYST gene. Pathophysiology ▾: The LYST gene defect leads to the formation of abnormally large,...
Diamond-Blackfan Anemia (DBA)

Diamond-Blackfan Anemia (DBA)

TL;DR Diamond-Blackfan Anemia or DBA is a rare, congenital blood disorder where the bone marrow fails to produce red blood cells. It is also known as congenital hypoplastic anemia. Causes ▾: The core cause is a defect in ribosome biogenesis, primarily due to...
Diffuse Large B-Cell Lymphoma (DLBCL)

Diffuse Large B-Cell Lymphoma (DLBCL)

TL;DR Diffuse large B-cell lymphoma (DLBCL) is the most common and aggressive type of non-Hodgkin lymphoma, a fast-growing cancer of B-lymphocytes. Epidemiology ▾: It is the most common non-Hodgkin lymphoma worldwide, with incidence increasing with age. Risk...
Mantle Cell Lymphoma (MCL Disease)

Mantle Cell Lymphoma (MCL Disease)

TL;DR Mantle cell lymphoma (MCL disease) is a rare and aggressive type of non-Hodgkin’s lymphoma that originates from B-cells in the “mantle zone” of the lymph nodes. Pathogenesis ▾: The hallmark of MCL is a specific genetic mutation called a...
Factor V Leiden Thrombophilia

Factor V Leiden Thrombophilia

TL;DR Factor V Leiden thrombophilia is a genetic condition caused by a mutation in the F5 gene that results in a defective Factor V protein, making it resistant to inactivation by activated protein C (APC). Pathophysiology ▾: Because the mutated Factor V...
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