Bare Lymphocyte Syndrome Case Report: A Rare IBD Mimicking Entity

Abstract We report the case of a 26-year-old female who was initially diagnosed with ulcerative colitis and put on steroids and azathioprine with an excellent therapeutic response. This patient presented a urinary infection, a colitis flare, and abnormal liver tests. HLA deficiency, a rare primary immune deficiency with very few cases reported, mainly around the Mediterranean Sea, was discovered upon investigation. HLA deficiency is a primary immune deficiency that occurs in childhood; it is rarely seen in adult patients, making this patient the longest-surviving HLA deficiency patient without treatment reported in the literature. Our case is unique because of the late discovery of HLA deficiency in this patient and its rarity as a differential diagnosis of inflammatory bowel disease. Upon the diagnosis' identification, we initiated a therapeutic regimen comprising antibiotics, ganciclovir, and immunoglobulins. Unfortunately, the patient succumbed to the sepsis despite intervention. The takeaway from the case report is to evoke IBD-like presentations of immune deficiencies when faced with refractory IBD, extra-intestinal symptoms, or an atypical presentation and to screen patients accordingly. Keywords: HLA deficiency, ulcerative colitis, primary immune deficiency, immunoglobins, inflammatory bowel disease.