CSF3R Gene

CSF3R (Colony Stimulating Factor 3 Receptor) is a protein-coding gene located on chromosome 1p34.3. The encoded protein, which belongs to the cytokine receptor family, may also play a role in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described.

Acquired activating heterozygous variants of CSF3R are the major cause of chronic neutrophilic leukemia, a hyperproliferative disease.

In contrast, biallelic hypomorphic germline variants of CSF3R are a rare cause of "severe congenital neutropenia (Kostmann syndrome)," a hypoproliferative disorder.

Versch. heterozygous CSF3R variants in the germline are risk factors for the development of myeloid and lymphoid malignancies. An important paralog of the CSF3R gene is IL6ST.

1. Klimiankou M et al. (2016) Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. Ann N Y Acad Sci 1370:119-125.
2. Skokowa Jet al (2017) Severe congenital neutropenias. Nat Rev Dis Primers 3:17032.
3. Trottier AM et al (2020) Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies. Blood Adv 4:5269-5284.