10-year old female complaining for recurrent upper RTI and otitis media during the last year referred to the Immunology Lab for immunophenotyping. PMH - Frequent infections since infancy Clinical findings - Absolute number of lymphocyte subsets are normal, Serum immunoglobulins- Total lymphocyte count- 4.327 ×109 /L T lymphocytes- CD3- 3.173, CD4- 1.528, CD8 - 1.998 ×109 /L Quantitative serum immunoglobulins (mg/dL)- IgG- 923, IgA- 55, IgM- 49 A molecular analysis of TNFRSF13B gene showed double heterozygous in TNFRSF13B, carrying the mutations V220A and P251L.
Fig 1- Cytometry analysis Fig 2- Molecular analysis of TNFRSF13B gene What could be the possible diagnosis in this case? *This case is from Docplexus Editorial Team for educative purpose only
