Dyskeratosis Congenita

Dyskeratosis Congenita

Key Takeaways Dyskeratosis congenita is a rare, inherited bone marrow failure syndrome caused by defects in telomere maintenance. This leads to abnormally short telomeres and premature cellular aging, primarily affecting rapidly dividing cells. Key Clinical...
Chediak-Higashi Syndrome

Chediak-Higashi Syndrome

Key Takeaways 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)

Key Takeaways 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...
Diffuse Large B-Cell Lymphoma (DLBCL)

Diffuse Large B-Cell Lymphoma (DLBCL)

Key Takeaways 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....
Mantle Cell Lymphoma (MCL Disease)

Mantle Cell Lymphoma (MCL Disease)

Key Takeaways 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...
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