Subphenotypes of Sickle Cell Disease: A Guide to Targeting Treatment?

Following the Genetic Breadcrumbs of MPNs.

We provide an overview of a recent study in Cancer Discovery by Leongamornlert and colleagues involving genomic profiling of 30 patients with myeloproliferative neoplasms using available blood or bone marrow samples to assess what factors underlie disease evolution or predict stability. See related article by Leongamor...

STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection

STAT1 defects present with diverse clinical phenotypes. Thiagarajan et al. describe an unusual genotype/phenotype: disseminated mycobacterial infection without CMC in the context of a pathogenic STAT1 GOF variant (p.Lys388Glu).

From Disease Control to Precision Care: The Enduring Legacy of Michele Baccarani in Chronic Myeloid Leukemia

The history of chronic myeloid leukemia (CML) is one of the clearest demonstrations of how biological insight, therapeutic innovation, and disciplined clinical observation can transform the natural history of a malignant disease [...]

Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia

Moussavi-Harami et al. report that biallelic loss-of-function variants in PTPN6, encoding the immune-regulatory phosphatase SHP1, cause anemia and fatal lung hyperinflammation in families from diverse ethnic backgrounds.

Celiac disease and developmental delay as the first manifestations of tripeptidyl peptidase 2 deficiency

shift toward a senescent B-cell profile may represent an important feature of the immune dysregulation observed in our patient. The combination of reduced functional B-cell subsets and underlying immune senescence likely explains the patient's susceptibility to recurrent otitis media and pneumonia despite complete diet...

Parkinson's-linked gene holds clues to battling deadly bacterial infections