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)

Neurological lesions are frequent complications of human immunodeficiency virus (HIV) infections. Organs involved include the brain, peripheral nerves and muscles. Since the widespread use of immunodepressive agents, spinal cord complications have also appeared although poorly documented in the literature. We observed six cases of spinal cord involvement which help indicate the modalities of practical management. In the first case, a 45-year old HIV1 + male presented dysesthesia evolving progressively over the T10 to L2 zones leading to the diagnosis of spinal cord toxoplasmosis. A gait disorder was the first sign in the second case, a 60-year old HIV1 + male. Neurological involvement progressed and the patient developed paraparesia, decreased muscular force with hypoesthesia and impaired proprioception of the lower limbs. Further complications led to coma and death and on autopsy, the patient was found to have cytomegalovirus myeloencephalitis. A 21 HIV1 + haemophiliac was our third case. Here paraplegia resulted from epidural compression due to Burkitt malignant lymphocytosis. The aggravation of paresthesia of the lower limbs, complicated by painful dysesthesia and proximal motor deficiency led to the suspected diagnosis of HIV-related myelitis in a particularly complicated case in a 52-year old seropositive male. In the fifth case, HIV infection led to major demelinization of the cervical and dorsal spinal cord due to toxoplasmosis and vacuolar myelopathy. In the sixth case, acute myelitis in an HIV2 positive male regressed spontaneously in 15 days. In clinical practice, spinal cord complications would appear to be frequent but less so than brain involvement. In the future, a better understanding of these complications should lead to specific identification of spinal cord signs in the neurological symptomatology of patients with HIV infection and allow adapted specific management.
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PMID:[Lesions of the spinal cord in HIV infection]. 789 90

Thirty human immunodeficiency virus (HIV) infected individuals entered a longitudinal study without signs of dysfunction of the central nervous system (CNS). Nine of these individuals developed a systemic illness between study visits, and 7 of these 9 patients (78%) had neurological signs at the next examination (e.g., action-intention tremors, abnormal gait, release signs, abnormal deep tendon reflexes). Only 2/21 (9.5%) of the subjects who did not develop systemic illness showed such signs. These data are consistent with the hypothesis that other factors (e.g. cytokines) as well as the HIV may cause subtle CNS dysfunction.
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PMID:Development of subtle neurological signs after systemic illness in HIV-infected individuals. 865 88

Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and variable degrees of immunodeficiency. Immunologic evaluations of affected patients often reveal anomalies of humoral and cell-mediated immunity. We describe a case of ataxia-telangiectasia with an atypical immunodeficiency and a novel mutation in the ATM gene. The patient presented at age 3 years with a perineal cellulitis associated with profound neutropenia and T-cell lymphopenia. Serum immunoglobulin levels and antibody titers were normal. Neurologic evaluation revealed minimal hypotonia and wide-based gait, without other signs of cerebellar dysfunction. The alpha-fetoprotein level was elevated, and molecular genetic testing confirmed the diagnosis of ataxia-telangiectasia, uncovering a novel ATM gene mutation c.3931C>T (p.Gln1311X) in exon 28. This patient presents a unique immunologic pattern with normal immunoglobulin levels, significant lymphopenia, and profound neutropenia. The diagnosis of ataxia-telangiectasia should be considered in children presenting with gait disorder and immunologic defects, regardless of subtype and severity.
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PMID:Ataxia-telangiectasia presenting with a novel immunodeficiency. 2252 Mar 55