Background and Aims

Primary immunodeficiency disease (PID) is an inborn error of the immune system, and is characterized by not only susceptibility to infection but also frequent combination with autoimmune diseases and malignancies, that may be the initial presenting symptom irrespective of a previous history, making the diagnosis a challenge.

Methods

We present a patient with multiple cytopenias as the first manifestations of a Artemis deficiency.

Results

Two years-old child came to our observation for severe hemolytic anemia. After administration of Rituximab, started four months after onset due to corticodependence, we observed a failed recovery of CD20 and a persistent hypogammaglobulinemia (normal B lymphocytes at pre-rituximab immunophenotyping).

At the age of 4, he developed an autoimmune thrombocytopenia responsive to treatment with IgEV and steroid therapy. Afterwards a significant increase in infectious morbidity (2-3 episodes/year with hospitalization) occured, in particular a “round pneumoniae”, responsive to treatment with antifungals. NGS panel for SCID/CID was started because the lymphocyte immunophentyping reveal low TCD4+ and persistent low CD20.

At the age of five, the patient was treated for a nasopharyngeal EBV-related large cell B lymphoma and the biopsy, performed on a persistent skin lesion of the ankle, showed a cutaneous CD8+ cytotoxic T-cell lymphoma.

The genetic investigation has subsequently identified a heterozygosity composed of 2 new mutations of the ARTEMIS enzyme (DCLRE1C(ARTEMIS):207_209delGTT;541_542insG:L70del;E181fs).

The patient performed haploidentical HSCT.

Conclusions

Autoimmune cytopenias that are refractory to treatments and affect multiple cell lines, even if not associated with recurrent infections, imply the suspicion of primary immune deficency.