Inflammatory diseases in hematology: a review

Area of Science:

• Hematology
• Immunology
• Genetics

Background:

• Hematopoietic cells drive inflammation, but excessive responses cause blood, bone marrow, and lymphatic diseases.
• Recent advances have been made in understanding three key categories of hematological inflammatory diseases.

Purpose of the Study:

• To review recent clinical and translational advances in three categories of hematological inflammatory diseases.
• To provide a framework for diagnosing rare and underrecognized inflammatory conditions.

Main Methods:

• Review of monogenic inflammatory diseases (germline and somatic mutations).
• Analysis of cytokine storm syndromes (e.g., hemophagocytic lymphohistiocytosis, Castleman disease).
• Examination of disorders associated with monoclonal and polyclonal hypergammaglobulinemia using serum protein electrophoresis (SPEP).

Main Results:

• Monogenic diseases like ADA2 deficiency, GATA2 deficiency, and VEXAS syndrome are linked to specific mutations.
• Cytokine storm syndromes involve excessive inflammatory cytokines (e.g., IL-6, IFN-γ), leading to organ damage and mortality.
• Hypergammaglobulinemia on SPEP can indicate rare inflammatory diseases like Schnitzler syndrome (monoclonal IgM), Rosai-Dorfman disease, and angioimmunoblastic T-cell lymphoma (polyclonal).

Conclusions:

• Categorizing hematological inflammatory diseases into monogenic, cytokine storm, and hypergammaglobulinemia-associated disorders aids diagnosis.
• Applying these categories helps identify rare and underrecognized inflammatory syndromes.
• Advances in genotype-driven research and diagnostic markers like SPEP improve patient outcomes.