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

The association of lymphoma and human immunodeficiency virus (HIV) seropositivity in a patient with a rare congenital clotting disorder (Factor X Friuli) is reported. The propositus was a previously asymptomatic HIV-positive 46-year-old man who suddenly presented a rapidly evolving right exophthalmos due to a centroblastic lymphoma, as the presenting symptom of full-blown AIDS. The clinical picture was characterized by unusual site of presentation, advanced stage and fatal course over a short period of time, despite therapy. Bone marrow, but not lymph node or parenchymal involvement, was present. Central nervous system involvement, with an unusual diffuse and massive pattern, and the B-cell origin of the lesion were demonstrated at autopsy. Few reports exist so far about the association of malignancy and HIV in patients with congenital coagulation disorders and this is the first report about a defect other than classic hemophilia.
 ...
PMID:First report of centroblastic lymphoma in a human immunodeficiency virus-positive patient with a rare congenital coagulation disorder (factor X Friuli). 195 Mar 77

Diagnostic criteria for allergic fungal sinusitis have not been established, and clinical information consists primarily of isolated case reports. We proposed five diagnostic criteria for allergic fungal sinusitis including: (1) the demonstration of the characteristic eosinophil-rich allergic mucin visually or histopathologically, (2) a positive fungal stain or culture from the sinus at surgery, and (3) the absence of immunodeficiency or diabetes. With these criteria, seven patients in our metropolitan area with allergic fungal sinusitis were identified in a short period. Initial symptoms in our seven patients reflected those in 99 case reports in that two children were first seen with proptosis, one child and three adults with nasal congestion, and one adult with symptoms of chronic sinusitis. All had pansinusitis as shown on x-ray films. Six patients were atopic, five had nasal polyposis, and five had Curvularia species cultured from the sinuses. Infections with Bipolaris species, asthma, and chronic sinusitis were less common in our patients than in those previously reported. Recurrent symptoms and additional surgery sometimes resulted when the diagnosis was delayed by failure to obtain silver stains for fungus on surgical material sent for histopathologic review. Sinus tomography showed that the fungal material in the sinuses was of high density, which distinguished it from polyps or bacterial exudate. Bony compression, erosion, and rupture of the sinus walls were common. Results of IgE levels, precipitin determinations, and eosinophil counts were variable in both our patients and those in the literature. On the basis of our review, we believe that the simple diagnostic criteria proposed are appropriate for both research and clinical purposes.
 ...
PMID:Diagnostic criteria for allergic fungal sinusitis. 762 60

The paper retrospectively reviews the spectrum of ophthalmic manifestations in human immunodeficiency virus (HIV) infection in Singapore between May 1995 and October 1996. One hundred and eighteen patients were examined for ocular abnormalities. Criteria for examination were 1) visual complaints, 2) absolute CD4 count of less than 50 cells/ul, 3) patients with acquired immunodeficiency syndrome-defining illness or 4) any relevant systemic illnesses which may have ocular involvement. Only 25 patients (21.2%) had visual symptoms. Eighteen patients (15.3%) had abnormalities associated with microvasculature. Forty-four patients (37.3%) had opportunistic infection involving the eye of which 37 were that of cytomegalovirus retinitis (CMVR). Seven patients (5.9%) had neuro-ophthalmic disorders. One patient presented with proptosis due to orbital lymphoma. Four patients (3.4%) had episcleritis and 3 patients (2.5%) had symptomatic dry eyes. It is still not known if episcleritis and dry eyes are associated with HIV infection or are coincidental. Fifty-one patients (43.2%) had no ocular pathology and remained so throughout the period of study. Nine patients (7.6%) had more than one pathology. The major cause of visual loss was due to ocular infections, with CMVR being most prevalent. Recognising the ophthalmic signs in HIV patients will facilitate early diagnosis. Prompt treatment of eye involvement can prevent or delay blindness, which is psychologically and functionally important to these patients.
 ...
PMID:Ophthalmic manifestations in human immunodeficiency virus infection in Singapore. 949 60

Two children (ages 12 and 13 years) with transfusion-acquired human immunodeficiency virus (HIV) infection presented with facial pain and rhinorrhea. Radiographic imaging showed extensive paranasal sinus disease, presumed to be bacterial sinusitis, and the patients were treated with broad-spectrum oral antibiotics. Both patients were unresponsive to oral agents and were switched to intravenous antibiotics. Despite aggressive antimicrobial therapy, one patient (case 1) developed increased periorbital swelling and proptosis, and the other patient (case 2) developed symptoms of nasopharyngeal obstruction. Repeat imaging showed progression of the infiltrative process extending from the paranasal sinuses into the orbit (case 1), and nasopharynx (case 2). Surgical exploration and tissue biopsies were performed on both patients and the histopathology was consistent with Burkitt's/Burkitt's-like lymphoma. Combination systemic and intrathecal chemotherapy resulted in a complete remission in both patients. These reports illustrate the fact that Burkitt's/Burkitt's-like lymphoma in the paranasal sinuses may initially masquerade as an acute bacterial sinusitis. The ability of the tumor to extend rapidly from the sinuses into the orbit and nasopharynx reinforces the importance of early diagnosis and treatment. Burkitt's/Burkitt's-like lymphoma in the paranasal sinuses has not been previously described in HIV-infected children.
 ...
PMID:Burkitt's/Burkitt's-like lymphoma presenting as bacterial sinusitis in two HIV-infected children. 1158 30

Burkitt lymphoma is a rapidly growing, high-grade non-Hodgkin lymphoma occurring in three distinct clinical subtypes: endemic, sporadic, and human immunodeficiency associated. The sporadic subtype typically presents as an abdominal mass. Orbital involvement has rarely been reported. The authors report a case of Burkitt lymphoma presenting as rapidly progressive proptosis and loss of vision. Given the tumor's rapid growth rate, potential for vision loss, and good response to chemotherapy, clinicians should be aware of this rare presentation.
 ...
PMID:Rapid onset proptosis and vision loss as the initial presentation of Burkitt lymphoma. 1871 42

Tuberculosis is the second leading cause of death worldwide after human immunodeficiency virus/AIDS and is especially prevalent in developing countries. We report a case of primary sinonasal tuberculosis without pulmonary involvement, which is rare, in a 27-year old female Nigerian fish farmer. She had a 3-year history of right-eye proptosis, bilateral nasal masses, and epistaxis. Cranial computed tomography suggested an extensive sinonaso-orbital neoplastic lesion. We performed a right external frontoethmoidectomy. Histologically, the excised nasal polyps revealed tuberculosis. Six months of antituberculosis therapy provided satisfactory improvement. Sinonasal tuberculosis, despite its rarity, should be added to the differential diagnosis of nasal and paranasal sinus disorders, and histologic evaluation remains the hallmark of diagnosis. Therapy with a short-duration, multidrug combination, rather than the longer-duration treatment regimen hitherto used, could be quite valuable, especially in the setting of a developing country with poor patient compliance.
 ...
PMID:Primary sinonasal tuberculosis in a Nigerian woman presenting with epistaxis and proptosis: a case report. 1975 Apr 61

A 43-year-old Asian man with idiopathic CD4+ lymphocytopenia (human immunodeficiency virus [HIV]-negative acquired immunodeficiency syndrome [AIDS]) noted blurred vision OD. Visual acuity was 20/30 OD and 20/15 OS. The right eye showed features of axial proptosis (2 mm), blepharoptosis, upgaze restriction, conjunctival chemosis, color desaturation, and choroidal folds. The OS was unremarkable. There was no lymphadenopathy. Orbital MRI showed a well-circumscribed mass indenting the globe. Excision revealed diffuse large-B-cell lymphoma. Systemic evaluation was negative and adjuvant external beam radiotherapy to the right orbit was performed. Idiopathic CD4+ lymphocytopenia is a rare hematologic condition characterized by depletion of CD4+ T cells in HIV-negative patients. This condition closely resembles AIDS but HIV serology is negative. Similar to AIDS, patients are at risk for opportunistic infections and neoplasia, including systemic lymphoma. This is the first case, to the authors' knowledge, of orbital lymphoma with idiopathic CD4+ lymphocytopenia.
 ...
PMID:Orbital lymphoma in the setting of idiopathic CD4+ lymphocytopenia (HIV-negative AIDS). 2124 46

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.
 ...
PMID:Orbital diffuse large B-cell lymphoma with combined variable immunodeficiency. 2871 89