Common Variable Immunodeficiency (CVID) encompass a group of antibody deficiencies characterized by markedly decreased immunoglobulins and defective specific antibody responses or decreased memory B cell counts. CVID patients suffer, generally, recurrent bacterial infections, but can also present potentially severe complications as autoimmune diseases, lymphoproliferative disorders, enteropathy and malignancies. We describe a patient diagnosed with CVID that presented two malignant hematological complications of different cell lineage that received an allogenic HLA-identical related HSCT with complete immunological reconstitution.
The immunophenotype was studied by flow cytometry. Genetic analysis was performed by a next-generation sequencing customized targeted panel containing known PID related and several PID candidate genes. Immunological reconstitution was evaluated a regular time-points after HSCT.
We present the case of a 37-year-old woman, that has been followed-up since her childhood in our Clinical Immunology out-patient clinic with the diagnosis of CVID. She presented autoimmunity, recurrent infections and two lymphomas of different lineage (nodular sclerosis and lymphoplasmacytic).
The immunological study showed hypogammaglobulinemia, positive antinuclear antibodies, lymphopenia with a decrease in B lymphocytes, increase in NK cells, inversion of CD4/CD8 ratio and loss of post-vaccinal response.
The genetics did not reveal pathogenic variants. Due to the onco-hematological complications, at 35-years-old she received an hematopoietic stem cell transplant with a good clinical and immune response, that currently allowed the progressive suspension of her habitual treatments.
HSCT can be a curative procedure, preventing complications and improving quality of life of CVID and monogenic CVID-like disorders in adults. Risk-assessment and personalized evaluation depending on donor source is mandatory.