Myelodysplastic Syndrome in a Patient With Common Variable Immunodeficiency: A Rare Occurrence

Area of Science:

• Hematology
• Immunology

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired B-cell function and antibody production.
• CVID commonly presents with sinopulmonary and gastrointestinal issues and has a known association with acute myeloid leukemia.
• The association between CVID and myelodysplastic syndrome (MDS) is exceptionally rare.

Observation:

• A 26-year-old patient with CVID presented with severe thrombocytopenia.
• Bone marrow biopsy showed hypercellular marrow with increased CD34 blasts and loss of the Y chromosome.
• The patient was diagnosed with MDS with excess blasts-2, classified as intermediate-risk.

Findings:

• The patient received azacitidine, a hypomethylating agent, for MDS treatment.
• Referral for allogeneic stem cell transplant was made for further management.
• This case underscores a rare complication of CVID.

Implications:

• This case expands the known spectrum of CVID complications.
• Highlights the importance of considering hematologic malignancies in CVID patients.
• Suggests potential need for closer hematologic monitoring in CVID patients.