The JAK–STAT signal transduction pathway is responsible for mediating signals of over fifty
cytokines, growth factors and hormones. Signaling through the JAK–STAT pathway is …

Acute lymphoblastic leukemia (ALL) is a disseminated malignancy of B-or T-lymphoblasts
which imposes a rapid and accurate diagnostic process to support an optimal risk-oriented …

T‐cell acute lymphoblastic leukemia (T‐ALL) is an aggressive and heterogeneous disease.
The diagnosis is predominantly based on immunophenotyping. In addition to known …

Mutations in genes encoding components of the immune system cause primary
immunodeficiencies. Here, we study a patient with recurrent atypical mycobacterial infection …

Structural variation (SV), involving deletions, duplications, inversions and translocations of
DNA segments, is a major source of genetic variability in somatic cells and can dysregulate …

Fusion genes involving MEF2D have recently been identified in precursor B-cell acute
lymphoblastic leukemia, mutually exclusive of the common risk stratifying genetic …

Next generation sequencing has uncovered several genes with associated mutations in
hematologic malignancies that can serve as potential biomarkers of disease. Keeping …

Mutations in PHF6 are the cause of Börjeson–Forssman–Lehman syndrome (BFLS), an X-
linked intellectual disability (XLID) disorder, and both T-cell acute lymphoblastic leukemia (T …

T-cell lymphoblastic lymphoma (T-LBL) and lymphoblastic leukemia (T-ALL) represent
malignancies that arise from the transformation of immature precursor T cells. Similarities in …

NUP214 is a component of the nuclear pore complex (NPC) with a key role in protein and
mRNA nuclear export. Chromosomal translocations involving the NUP214 locus are …