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Fig. 2 | Cellular & Molecular Biology Letters

Fig. 2

From: VEXAS, Chediak–Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Fig. 2

Similarities in hematopoietic manifestations in VS, CHS and DD. VS, CHS and DD are characterized by inactivating mutations in UBA1, LYST and LAMP2, respectively. The main similarities between these three clinical conditions are a recurrent dysfunction of the proteosomal and/or the endolysosomal pathways which leads to an accumulation of small to giant vacuoles, corresponding to non-functional lysosomes. Granulocytic dysfunction and neutropenia are also common features of VS, CHS and DD, while anemia is also consistently observed in VS. Finally, diverse inflammatory manifestations and increase production of inflammatory cytokines are also hallmarks of all three diseases

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Cellular & Molecular Biology Letters

ISSN: 1689-1392

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