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)

Twenty-three children with vertically transmitted human immunodeficiency virus type 1 (HIV-1) infection were seen at Baragwanath Hospital between May 1989 and April 1990. There was a marked increase in the number of cases in 1990. Infected children presented at a median age of 6 months; most commonly with lymphadenopathy, failure to thrive and respiratory complications. Serious bacterial infections occurred in 39%. Reversed helper T- to suppressor T-cell ratios were present in all but 1 of 16 children tested and hypergammaglobulinaemia and anaemia (usually normocytic) were frequently present. Some of the children have already died and the outlook for the others is bleak. With the increase of HIV infection in the heterosexual population, increasing numbers of infected children can be expected.
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PMID:Vertically transmitted HIV-1 infection in children. A report of 23 cases. 199 87

We sought to determine if failure to thrive in pediatric patients with the human immunodeficiency virus could be explained based on endocrine dysfunction. Fourteen human immunodeficiency virus-infected pediatric patients, all of whom had adequate nutritional status, underwent endocrine evaluation. Growth hormone and cortisol responses to glucagon stimulation were adequate. Despite this, eight of the 12 subjects had low somatomedin C levels. Although all patients were clinically and biochemically euthyroid, 36% (5/14) demonstrated elevated baseline and peak thyrotropin levels in response to thyroid releasing hormone, suggesting a state of compensated hypothyroidism. Although the importance of these findings is unclear, it is possible that subtle alterations of thyroid regulation may contribute to failure to thrive in some pediatric patients infected with human immunodeficiency virus and may represent a potentially correctable defect.
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PMID:Endocrine function in children with human immunodeficiency virus infection. 200 85

We report the immunological characteristics of five patients with Omenn's syndrome, a rare inherited immunodeficiency also known as combined immunodeficiency with hypereosinophilia. The syndrome is characterized by T cell infiltration of skin, gut, liver, and spleen leading to diffuse erythroderma, protracted diarrhea, failure to thrive, and hepatosplenomegaly. Blood T cells as well as those infiltrating the skin and gut were found to express activation markers and were partially activated by mitogens but not by antigens. Although the lesions resembled those in graft-versus-host disease, the blood T cells were shown by DNA haplotype analysis using probes revealing variable number of tandem repeats to belong to the patients as well as the T cells infiltrating the gut and skin in one patient. A given T cell subset (TCR alpha beta+, CD4+/CD8+, or TCR gamma delta+) was predominant in each patient, with a specific distribution in the skin lesions. Moreover, the study of T cell receptor beta, gamma, and delta gene rearrangements in four patients revealed oligoclonality involving C beta 1, C beta 2, or different V gamma J gamma or V delta J delta genes. This indicates that restricted heterogeneity of the T cell repertoire, previously reported in one case, is a major feature of this syndrome. The occurrence of alymphocytosis-type severe combined immunodeficiency in the brother of one of the patients suggests that the restricted heterogeneity of T cell receptor gene usage in Omenn's syndrome may arise from leakiness, within the context of a genetically determined faulty T cell differentiation.
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PMID:Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). 201 May 48

To evaluate whether frank or subtle disorders of adrenal steroidogenesis exist in human immunodeficiency virus (HIV)-infected children, the adrenal steroid response to an iv bolus of ACTH-(1-24) (0.25 mg Cortrosyn) was determined. Ten children (six males and four females, aged 7 months to 7.5 yr) were studied. Five underwent repeat testing 3-5 months after initial assessment. Nine patients were classified as P2 or symptomatic according to the Center for Disease Control criteria for HIV infection in children. Eight had failure to thrive, six had opportunistic infections and neurological deficits, and two were receiving ketoconazole at the time of ACTH testing. Only one patient had a neonatally acquired transfusion-related HIV infection. Three of the children died 2-5 months after ACTH testing. All patients had normal or slightly elevated baseline and stimulated cortisol levels compared to the control population. The mean post-ACTH cortisol level was significantly higher than the mean post-ACTH level in the control population. No patient demonstrated an impaired aldosterone response to ACTH. The basal and ACTH-stimulated dehydroepiandrosterone levels were normal. Although individual deoxycorticosterone and corticosterone levels were variable, the mean stimulated deoxycorticosterone and corticosterone levels in the patients were suggestive of a selective defect of the 17-desoxy pathway in the adrenal fasciculata. No changes were noted in the patients' cortisol, dehydroepiandrosterone, and aldosterone responses on repeat ACTH testing. In HIV-infected children we have demonstrated that cortisol and aldosterone synthesis is intact. Thus, the chronic debilitation observed cannot be explained on the basis of adrenal insufficiency. However, a selective deficiency of 17-desoxysteroid hormone production from the adrenal fasciculata may be present.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Steroid response to adrenocorticotropin stimulation in children with human immunodeficiency virus infection. 230 20

The predominantly heterosexual transmission of human immunodeficiency virus (HIV) in Africa suggests that pediatric acquired immunodeficiency syndrome (AIDS) could develop into a significant child health problem in this region. To assist clinicians in recognizing HIV infection in African children, the clinical features of 185 children with symptomatic HIV-related disease diagnosed at the 2 central hospitals in Harare, Zimbabwe, from April 1986-July 1987 were enumerated. In this period, 185 such cases were diagnosed. 83 (47%) involved children 0-12 months of age and another 61 (35%) represented children 13-24 months old. The male/female ratio was 1.0:1.03. The most frequently recorded clinical feature (52% of cases) was generalized lymphadenopathy, with or without hepatosplenomegaly. 45% of HIV-infected children presented with respiratory symptoms and pulmonary infiltrates on chest x-ray. Failure to thrive was present in 38% of cases. Also relatively common were hepatomegaly and splenomegaly (35% and 26%, respectively). Chronic, recurrent diarrhea was present in 21%. Less frequently observed (under 10% of cases) clinical findings were maculopapular eczematoid rashes, parotid swelling, chronic suppurative otitis media, chronic mucopurulent rhinitis, meningitis, and encephalopathy. 3 main clinical modes of presentation were identified--children with failure to thrive or marasmus in association with chronic diarrhea and developmental delay, those with generalized lymphadenopathy and hepatosplenomegaly, and children who present with chronic cough with pulmonary infiltrates on chest x-ray.
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PMID:Clinical presentation of symptomatic human immuno-deficiency virus in children. 226 23

Multiple hyperechoic foci were noted on a head sonogram in the basal ganglia and periventricular white matter of an eleven month old, human immunodeficiency virus (HIV) seropositive male infant. The infant presented with failure to thrive, recurrent viral and bacterial infections, and progressive neurologic impairment. Toxoplasmosis, Cytomegalo-inclusion virus and other "TORCH" infections were excluded. A computed tomography (CT) scan of the brain demonstrated multiple punctate calcifications in the above areas. The literature indicates that these changes might be the result of direct HIV infection of the brain. To our knowledge this is the first reported case of the sonographic findings.
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PMID:Intracranial human immunodeficiency virus infection in an infant: sonographic findings. 228 45

Acute graft-vs-host disease occurring during the early weeks of life has been previously reported as a rare disease entity. We report a case of acute graft-vs-host disease in a female infant with an immunodeficiency that was thought to be secondary to intrauterine or neonatal cytomegalovirus infection or, less likely, to a severe combined immunodeficiency. The patient presented with a triad of failure to thrive, diarrhea, and maculopapular and petechial rash. The first clue to diagnosis was the skin biopsy finding of an epidermal lymphocytic infiltrate in association with individual necrotic keratinocytes. The diagnosis was confirmed at autopsy. In the absence of an obvious graft, the disease is believed to have been the result of maternofetal T-cell transfer in utero or at delivery.
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PMID:Acute graft-vs-host disease in an immunodeficient newborn possibly due to cytomegalovirus infection. 255 81

Perinatal transmission of human immunodeficiency virus is thought to occur in 25% to 50% of the offspring of infected women. Standard diagnostic methods do not permit identification of the infected newborns. To assess diagnostic methods and document the natural history of perinatal human immunodeficiency virus infection, 20 children born to human immunodeficiency virus-infected women were followed prospectively for 18 months by measuring antibody titer, Western blot profiles, and antigenemia, and the results were compared with clinical outcome. Endogenous synthesis of anti-human immunodeficiency virus IgG was demonstrated in 6 of the 8 infected children. Four children synthesized IgM against human immunodeficiency virus. Five had demonstrable p24 antigenemia. No significant differences between infected and noninfected children were noted at birth except drug withdrawal, which occurred more frequently in noninfected infants. The incidence of adenopathy, hepatomegaly, and neurologic and immunologic abnormalities in the infected children were compared with noninfected children. The distinguishing illnesses were the opportunistic infections, lobar pneumonia, and failure to thrive. Seven of the 8 infected children had human immunodeficiency virus-mediated disease by 1 year of age (Centers for Disease Control [Atlanta, Ga] P2 classification), and four had acquired immunodeficiency syndrome (Centers for Disease Control P2D). These studies offer an approach to diagnosis of human immunodeficiency virus infection in infants and document the natural history and possible outcomes of infected children.
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PMID:Natural history and serologic diagnosis of infants born to human immunodeficiency virus-infected women. 280 55

This report discusses the clinical and immunological findings in a symptomless human immunodeficiency virus (HIV) carrier and her 2 sons 4 and 8 years after presumed vertical transmission. The 1st child presented in 1982 (at age 3 months) with failure to thrive and in 1986 was found to be HIV positive. The boy's half brother (now age 8) was born in Africa and was tested positive in 1986 also. The 24 year old mother was HIV antibody positive and symptom free. It seems probable that both boys were infected with HIV by vertical transmission as the children had no other risk factors other than vertical transmission at delivery. The mother could have been infected by her 1st husband or at the time of birth of her 1st son, at which time she received a blood transfusion. The fact that it took 8 years to identify a high risk but symptomless HIV carrier is worrying and antenatal screening must be considered.
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PMID:Prolonged survival and late presentation of vertically transmitted HIV infection in childhood. 288 10

Five human immunodeficiency virus (HIV) antibody positive children developed recurrent infections requiring multiple hospital admissions. These comprised mainly upper respiratory tract infections, otitis media, pneumonia and diarrhoea, and there was failure to thrive despite adequate antibiotic therapy. They were commenced on iv immunoglobulin (IVIG) therapy and are now relatively free of serious infections and are gaining weight. This therapy was associated with a major reduction in the hospitalization required. In HIV antibody positive children the onset of serious infections, particularly with encapsulated gram-positive organisms, should be taken as an indication for the commencement of regular iv infusions of immunoglobulin.
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PMID:Treatment of human immunodeficiency virus antibody positive children with intravenous immunoglobulin. 290 32


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