An uncommon inborn error of immunity in an adolescent with Hodgkin lymphoma and bronchiectasis

Individuals with inborn errors of immunity (IEI) have an increased risk of developing malignancies compared to their peers. We report a case of Hodgkin lymphoma in an adolescent with CD27 deficiency. A 15-year-old girl presented with cervical swelling and breathlessness for 3 days. Her past history was remarkable, with a history of recurrent respiratory infections. On examination, she had grade 2 clubbing, bilateral cervical lymphadenopathy, hepatosplenomegaly, and bilateral coarse crepitations. Biopsy showed overlapping immunomorphological features of classic Hodgkin lymphoma (HL), with features intermediate between diffuse large B-cell lymphoma and HL. A staging PET-CT revealed a stage III disease and bronchiectatic changes in bilateral lungs. The serum immunoglobulin levels showed hypogammaglobulinemia. Next generation sequencing demonstrated a homozygous missense variant in the CD27 gene (c.319C > T; p.Arg107Cys). She was treated with ABVD/COPDac chemotherapy along with supportive care. She is currently 16 months post-treatment. CD 27 deficiency is a rare IEI with a CVID phenotype and a high propensity to develop lymphomas. Clinical suspicion, early detection, and management are warranted to prevent complications and mortality.