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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five infants with a triad of symptoms comprising generalized erythroderma, failure to thrive, and diarrhea are presented. All of these children demonstrated significant immunologic abnormalities. This is a recognizable clinical syndrome that reflects immunodeficiency; however, the responsible immunodeficiencies do not appear to be the same in every case. Early investigation and appropriate therapy may considerably reduce morbidity, and mortality in children with this syndrome.
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PMID:Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. 296 64

We herein report five new cases of severe combined immunodeficiency with hypereosinophilia, the so-called familial reticuloendotheliosis first described by Omenn. It is characterized by erythroderma, polyadenopathy, hepatosplenomegaly, severe and repeated infections, protracted diarrhoea with failure to thrive. There is marked eosinophilia as well as a profound immunodeficiency. The immunologic abnormalities consist of an increase in T cell number, a B cell lymphopenia and a complete lack of humoral and cellular immune responses to antigens. A deficiency of lymphocytes 5'-nucleotidase has been inconstantly found. Histologic findings are characteristic, consisting of severe T and B lymphocyte depletion in lymphoid organs with infiltration by histiocytes and, to a lesser extent, eosinophils. The outcome was uniformly fatal within the first year of life. Treatment by a combination of parenteral nutrition, steroids and epipodophyllotoxin was effective in obtaining the complete remission of clinical manifestations due to the histiocytic and eosinophilic infiltration in two patients. However, the treatment failed to correct the immunologic defect. These results indicate that the histiocytic infiltration is possibly not responsible for the immunologic detect observed in this condition.
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PMID:[Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases]. 298 12

A 3 1/2 year old girl presented with failure to thrive and a five month history of diarrhoea and recurrent cough. The results of sweat sodium tests suggested a diagnosis of cystic fibrosis; but atypical organisms were found (Haemophilus influenzae, Candida albicans, but no Staphylococcus aureus), she failed to respond to treatment, and her sweat sodium concentrations fell in response to fludrocortisone. She also had hyperglobulinaemia, neutropenia, and reduced numbers of T4 lymphocytes, which prompted the performance of a test for antibody to human immunodeficiency virus (HIV). This proved positive, and she was treated with co-trimoxazole, zidovudine, and human immunoglobulin. Both parents and two siblings were also positive for HIV, though all had normal sweat sodium concentrations. Children with symptoms suggestive of cystic fibrosis but who also show atypical features, as in this case, should have their HIV state checked.
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PMID:Abnormal sweat electrolytes in symptomatic human immunodeficiency virus infection in a child. 312 Oct 56

Infection with the human immunodeficiency virus (HIV) is characteristically associated with hypergammaglobulinemia in both adult and pediatric cases. We report herein four infants who had an HIV infection in association with severe hypogammaglobulinemia and did not exhibit antibodies against HIV. HIV was isolated antemortem or postmortem in all four infants from either peripheral blood, cerebrospinal fluid, or body tissues. HIV infection could be presumed to be acquired transplacentally in two infants and by way of infected blood transfusions during the neonatal period in the other two. Each infant became symptomatic within the first year of life and developed rapidly progressive manifestations of the disease. Features that were common to all four infants include premature birth, failure to thrive, hepatomegaly, and progressive neurological abnormalities that were associated with intracranial calcifications. We concluded that, when infection occurs early in development either by transplacental exposure to the virus or from blood transfusion in small premature infants, hypogammaglobulinemia and deficiency of antibody production leading to the absence of antibody responses on which diagnosis is usually based can occur. Furthermore, progressive central nervous system disease may be a frequent finding in such infants, and this may lead to cerebral calcifications that must be attributed to the HIV infection itself and not to complicating infections--e.g., toxoplasmosis. It is suggested that patients with hypogammaglobulinemia, antibody deficiency syndrome, and central nervous system disease have an extremely bad prognosis.
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PMID:Prematurity, hypogammaglobulinemia, and neuropathology with human immunodeficiency virus (HIV) infection. 347 85

As of December 1986, we have identified 23 symptomatic children with human immunodeficiency virus (HIV) infection in New Haven. Twelve developed AIDS as manifested by lymphocytic interstitial pneumonitis, Pneumocystis carinii pneumonia (PCP), and/or disseminated mycobacterial infections; seven of them have died. The remainder have milder clinical syndromes, which include failure to thrive, diffuse lymphadenopathy, and parotid swelling. When compared to adults with AIDS, children often have hypergammaglobulinemia and normal numbers of T4 lymphocytes. Intravenous drug abuse by the mother or mother's consort is the risk factor in 87 percent of these children. Two families have now been identified with more than one symptomatic child, but in no family is there evidence of spread from symptomatic children to uninfected siblings. A prospective study was begun to attempt to assess the risk of developing symptomatic HIV infection when a child is born to a mother with antibodies to HIV.
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PMID:AIDS and antibodies to human immunodeficiency virus (HIV) in children and their families: clinical experience at Yale-New Haven Hospital. 348 Nov 46

Two patients with gastrointestinal tract abnormalities were discovered to have significant defects in both humoral and cellular immunity. Patient 1, a 4-year-old girl with suspected food allergy, failure to thrive, and chronic diarrhea, exhibited a decreased serum IgG immunoglobulin level, decreased numbers of peripheral blood T lymphocytes (erythrocyte rosettes), decreased numbers of T-lymphocyte subpopulations (T3+, T4+), decreased responses of lymphocytes to common mitogens, and absent in vivo responses to delayed hypersensitivity skin test antigens. Patient 2, a 3-year-old girl with chronic anemia, presented with immunological abnormalities similar to those of patient 1. On investigation, both patients were found to have significant structural abnormalities of the gastrointestinal tract. Patient 1 had a malrotation of the small bowel, while patient 2 had a cavernous hemangioma of the mid-jejunum. Following surgical correction of the gastrointestinal abnormalities, there was improvement in all immunologic values. By ten to 18 months after surgery, both patients demonstrated normal immunological function. Thus, anatomic lesions of the gastrointestinal tract that mimic more common childhood disorders, such as food allergy and anemia, may produce serious states of secondary immunodeficiency.
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PMID:Immunodeficiency secondary to structural intestinal defects. Malrotation of the small bowel and cavernous hemangioma of the jejunum. 348 95

A fourteen-week-old boy is described who was admitted with failure to thrive and an interstitial pneumonia caused by Pneumocystis carinii infection. A late onset congenital rubella infection was diagnosed in combination with an immunodeficiency. The congenital rubella infection induced a chronic meningoencephalitis. Further investigations revealed intracerebral calcifications on computerized tomography of the skull. The clinical symptoms of early and late onset congenital rubella syndrome are described. The differential diagnosis of intracerebral calcifications are shortly reviewed.
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PMID:[Intracerebral calcification in a patient with late-onset congenital rubella]. 349 69

A nine-month-old female Jamaican infant presented with a history of severe failure to thrive, recurrent pneumonia and developmental delay. She was found to have hepatosplenomegaly, generalised lymphadenopathy and hypotonia. Investigations revealed polyclonal hypergammaglobulinaemia, cytomegalovirus in her urine, and patchy lung infiltrates on her chest radiographs. Three separate tests were positive for human immunodeficiency virus in both the infant and her mother, suggesting vertical transmission, and confirming AIDS as the cause of the severe failure to thrive.
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PMID:AIDS in an infant causing severe failure to thrive. 366 67

The mitotic activity of epithelial lymphocytes (expressed as percentage mitotic figures/3,000 lymphocytes/mucosal biopsy) was determined in a random sample of jejunal biopsies performed on 44 children with malabsorption, diarrhoea, or failure to thrive. The mitotic index (MI) exceeded 0.2% in 19 biopsies obtained from children with untreated celiac sprue (CS); there were no false positives. The remaining 25 biopsies (MI of less than 0.2%) were considered to be "nonceliac" in origin, among which were several with a severe degree of villous flattening. Conditions in this latter category excluded by a low MI included cow's milk protein enteropathy, selective immunoglobulin A deficiency, combined variable immunodeficiency, Crohn's jejunitis, and intractable diarrhoea of infancy. A high MI (greater than 0.2%) prospectively distinguishes mucosal lesions due to untreated CS from other causes of malabsorption, particularly those associated with villous flattening, but in which the MI is less than 0.2%. This index is therefore proposed as a simple, reliable, and prospective histological marker of CS, and one that could: reduce the need to perform multiple biopsies during a gluten-free diet; and avoid the necessity for follow-up "diagnostic" gluten challenges, especially in very young children.
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PMID:Studies of intestinal lymphoid tissue. VIII. Use of epithelial lymphocyte mitotic indices in differentiating untreated celiac sprue mucosa from other childhood enteropathies. 406 81

A new syndrome of acquired immunodeficiency has been identified in seven children who were small for gestational age at birth and subsequently have exhibited failure to thrive, lymphadenopathy, parotitis, hepatosplenomegaly, interstitial pneumonia, and recurrent infections. All have a profound cell-mediated immunodeficiency with reversed T4/T8 ratios. Six are hypergammaglobulinemic and one has low IgG levels. The mothers of five of the seven children are sexually promiscuous and/or drug addicts. Three mothers have an immunodeficiency similar to that found in their infants. One of them died at age 33 years with a diagnosis of acquired immunodeficiency syndrome. In five of the children and in three of their mothers, there is evidence of a persistent Epstein-Barr virus (EBV) infection. We speculate that a perinatal or in utero transmission of EBV can induce an "infectious immunodeficiency." The clinical, histopathologic, and immunologic features resemble those described in adult homosexuals and drug addicts.
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PMID:Acquired immunodeficiency with reversed T4/T8 ratios in infants born to promiscuous and drug-addicted mothers. 622 Jan 66


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