Interdisciplinary approach to diagnosis and treatment of primary immunodeficiency

The article describes a clinical case of a patient with primary immunodeficiency. Initially, the patient presented symptoms of febrile temperature, recurrent respiratory infections, hematological changes in the form of anemia, neutropenia, thrombocytopenia, elevated liver transaminases, episodes of nose bleeds and was observed by an infectious disease doctor.

When lymphadenopathy was revealed, the patient was referred to an oncologist and diagnosed with follicular lymphoma. Splenectomy was performed and 1 course of chemotherapy was administered resulting in stabilization of the patient’s condition for 6 months. Dynamic observation of lymph node biopsies at a federal hematological center ruled out the diagnosis of follicular lymphoma. Concurrently, hypergammaglobulinemia was diagnosed, lymphadenopathy persisted, and the patient was referred to an immunologist. The patient underwent molecular genetic testing, and mutations in STAT3 and RIPK1 genes were detected with undetermined clinical significance. The patient was diagnosed with primary immunodeficiency with immune dysregulation, lymphoproliferative and autoinflammatory syndromes. The patient was kept under observation of an immunologist and a hematologist, was regularly examined by a gastroenterologist and a rheumatologist. The patient received immunosuppressive rituximab therapy and filgrastim for severe neutropenia, was administered preventive antibiotics, antifungal medications, antiviral medications after diagnosis of cytomegalovirus and Epstein–Barr virus. Additionally, plasmapheresis was performed several times. The patient received consultations at the leading immunological, hematological, rheumatological centers. He was also administered anticytokine therapy with an anti-interleukin-1 monoclonal antibody with no significant clinical effect.

Due to insignificant clinical effect during rituximab therapy, the patient was prescribed ruxolitinib. This treatment resulted in normal neutrophil count, decreased intensity of fever, rare episodes of nasal bleeding and ulcerative stomatitis but lymphoproliferation syndrome persisted. In addition, the patient developed pain and swelling in the joints so low-dose oral prednisolone was also prescribed in combination with ruxolitinib. This treatment resulted in improvement of clinical and laboratory parameters of the patient.

This clinical case demonstrates the complexity of diagnosis and treatment of a patient with primary immunodeficiency, the necessity of interdisciplinary approach in management of such patients.