Multiple Immune Dysregulation Conditions with a Single Underlying Root Cause of NRAS Gene-Positivity: A Case Report

Abstract

Hematological malignancies in particular are recognized to be linked to immunological dysregulated disorders such hematolytic anemia, immunodeficiency, and autoimmune illnesses. We describe a rare case that had multiple immune dysregulation symptoms and was subsequently found to be positive for the NRAS gene. A male, 29, complained of pleuritic chest pain. On the ECG, he showed broad PR depression and elevated PR in aVR, along with elevated troponin. He received colchicine and NSAIDs as treatment with a good response and resolution of his symptoms. After four weeks, he developed a fever which thought to be secondary to perianal abscess, and a surgical incision and drainage along with broad spectrum antibiotics was used to treat a perianal abscess. Despite receiving extensive medical and surgical care, his fever persisted. His blood film started to show circulating blast cells. Following an immediate bone marrow aspiration and biopsy, there were no notable abnormalities seen, and a 1% blast was present, which was assumed to be the result of stress or infection. Later, a weak positive +1 Coombs (DAT) test is developed and caused active hemolytic anemia required blood transfusion. Along with the anemia, a wrist expanding wound was discovered in the previous IV cannula site. Clinically wound appears as a pyoderma gangrenosum. Histopathology showed purulent dermal inflammation including many neutrophils and macrophages. This feature of micro abscess formation was consisting with the diagnosis of pyoderma gangrenosum. An intravenous steroid (1 mg/kg) was administered in response to a positive Coombs test and pyoderma gangrenosum. The patient's condition greatly improved overall. His wound began to heal as his white blood cell count dropped. After being given oral steroids with a titration-down plan, the patient was sent home. A whole genome sequence was performed on him because he had peri myocarditis, pyoderma gangrenosum, and hematolytic anemia. The results show that he is NRAS gene positive. He was attentively observed clinically with regular out-patient follow-ups as this gene is strongly associated with hematological cancers. He developed symptomatic normocytic anemia a few months later, and a bone marrow aspiration and biopsy were performed to confirm the presence of Myelodysplastic syndromes (MDS). He was transferred to another facility and underwent chemotherapy and bone marrow transplant. In otherwise healthy individuals, the idea of offering a single explanation—Occam's razor—must be considered and investigated. Finding the underlying reason could improve patient care, enable precision therapy, and alter the course of events.