Kostmann’s disease is a form of severe congenital neutropenia due to a deficiency of the mitochondrial protein HAX1, leading to apoptosis of developing myeloid cells and persistent neutropenia.
La enfermedad de Kostmann es una forma de neutropenia congénita grave debido a una deficiencia de la proteína mitocondrial HAX1, que conduce a apoptosis de células mieloides en desarrollo y neutropenia persistente.
| Front | A form of severe congenital neutropenia, an inherited condition in which the neutrophil count is low. In Kostmann’s disease, this is due to a deficiency of the mitochondrial protein HAX1, which leads to apoptosis of developing myeloid cells and persistent neutropenia |
|---|---|
| Back | Kostmann’s disease |
Learn with these flashcards. Click next, previous, or up to navigate to more flashcards for this subject.
Next card: State virus infects cell replicate latency
Previous card: Common form infection epstein–barr virus consists fever malaise
Up to card list: Janeway's Immunobiology 9th Edition Concept Flash Card