Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Common variable immunodeficiency (CVID) is a primary immunodeficiency manifesting as a reduction in the level of total immunoglobulin (Ig) G, a reduction in the level of either IgA or IgM, poor response to polysaccharide vaccine, and usually frequent infections. The association of CVID with an increased risk of malignancy, specifically lymphoma, is well known. A 63-year-old female with a past medical history significant for CVID presented with a 1-month history of dull, left eye pain with proptosis, hypoglobus, and left upper lid fullness without a discrete palpable mass. Magnetic resonance imaging (MRI) of the orbits revealed a diffuse infiltrating orbital mass superonasally with extension into the superior rectus muscle, medial rectus muscle, and optic nerve up to the orbital apex and ethmoid sinus. A superonasal orbital biopsy with a caruncular approach was performed and demonstrated a sparse lymphoid infiltrate that was suggestive for a large B-cell neoplasm. Positron emission tomography (PET) scan demonstrated a hypermetabolic right lymph node, anterior to the right submandibular gland, which was biopsied and histopathology confirmed diffuse large B-cell lymphoma (DLBCL). Our patient achieved a very good response to chemotherapy with minimal residual disease on PET scan at the end of treatment. She attained a complete remission after radiation therapy. In conclusion, patients with new orbital and adnexa masses in the setting of a primary immunodeficiency can have an aggressive malignancy such as DLBCL and early diagnosis and systemic treatment carries a good prognosis.
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PMID:Orbital diffuse large B-cell lymphoma with combined variable immunodeficiency. 2871 89

Multiple myeloma is a biologically diverse, malignant disease that involve plasma cells. Multiple myeloma is characterized by the unrestrained proliferation of monoclonal plasma cells within the bone marrow. In the present case report, the case of a human immunodeficiency virus (HIV) positive patient with an initial manifestation of extramedullary myeloma involving the parotid gland is described. The patient had been on antiretrovirals for the last two years. A Medline, Embase, Scopus and Google Scholar search was performed using the key words: 'Parotid extramedullary myeloma AND HIV' as part of the literature review. A 46-year-old female presented to our hospital with a 6-month history of a painful mass on the left side of the face, involving the parotid area, with rapid growth in the preceding month. There was associated fever, body pains and difficulty opening the mouth. This resulted in difficulty in mastication and she also reported pain on swallowing. She did not notice any weakness of her face on the left side. She had no complaints regarding her eyes, such as visual disturbances, eye pain, or an inability to close the eye on the affected side. The patient was diagnosed with HIV infection 2 years prior, and had been on highly active antiretroviral therapy (HAART) since the diagnosis. There is no consensus regarding a treatment protocol for HIV positive patients on HAART and multiple myeloma. However, based on the clinical case report and a review of the relevant literature, the treatment should include high doses of a combination of chemotherapeutic agents. Although multiple myeloma is considered incurable, all patients should be started on treatment with the goal of preventing further complications.
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PMID:Initial manifestation of parotid extra-medullary myeloma in an HIV positive patient on anti-retroviral therapy: A case report and review of the literature. 3276 67