Granulocyte differentiation arrest in HAX1-deficient cells, demonstrated in a new in vitro model of a certain phenotypic aspects of Kostmann disease, is caused by ineffective lipid droplet autophagy and fatty acids uptake.

doi:10.1038/s41419-026-08805-y

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Granulocyte differentiation arrest in HAX1-deficient cells, demonstrated in a new in vitro model of a certain phenotypic aspects of Kostmann disease, is caused by ineffective lipid droplet autophagy and fatty acids uptake.

Cell death & disease - 5 May 2026

Wakula Maciej, Jablonowska Milena, Chmielarczyk Mateusz, Tarnowski Leszek, Kulinczak Mariusz, Sitkiewicz Ewa, Swiderska Bianka, Samborowska Emilia, Radkiewicz Mariusz, Kianfar Mostafa, Statkiewicz Malgorzata, Rumienczyk Izabela, Balcerak Anna, Konopinski Ryszard, Trebinska-Stryjewska Alicja, Grzybowska Ewa A

Abstract excerpt

Molecular mechanisms underlying congenital neutropenia in patients with HAX1 deficiency are not clear at the moment. HAX1 deficiency was shown to result in the arrest of neutrophil differentiation. Our studies of the effect of HAX1 deficiency on the proteomic and metabolic profiles of promyelocytic cells have led to the conclusion, supported by specific tests, that fatty acid metabolism is affected in HAX1 KO...

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PMID: 42086536
DOI: 10.1038/s41419-026-08805-y

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HAX1

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