0000000000773022
AUTHOR
Laurence Faivre
Altered chemotactic response to CXCL12 in patients carrying GATA2 ă mutations
International audience; GATA2 deficiency formerly described as MonoMAC syndrome; dendritic ă cells, monocytes, B cells, and natural killer cell deficiency; familial ă myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome ă encompasses a range of hematologic and nonhematologic anomalies, mainly ă characterized by monocytopenia, B lymphopenia, natural killer cell ă cytopenia, neutropenia, immunodeficiency, and a high risk of developing ă acute myeloid leukemia. Herein, we present 7 patients with GATA2 ă deficiency recruited into the French Severe Chronic Neutropenia ă Registry, which enrolls patients with all kinds of congenital ă neutropenia. We performed extended immunopheno…
Mutational spectrum in PIK3CA-Related Overgrowth Spectrum (PROS) and recommendations for molecular testing
International audience