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)

An infant with diarrhea, failure to thrive, and a seborrhea-like skin eruption was thought to have fatal familial Leiner's syndrome. Treatment with nonirradiated plasma was followed by graft-vs-host disease and fatal toxic epidermal necrolysis; thymic hypoplasia was found at autopsy. Accurate diagnosis of immunodeficiency syndromes is essential to avoid potentially harmful therapy.
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PMID:Toxic epidermal necrolysis from graft-vs-host disease. Occurrence in a patient with thymic hypoplasia. 2 35

Two cases of immunodeficiency with increased IgM are reported. Patient 1 was a black male 3.5 years old who had recurrent pyogenic infections, failure to thrive, oral thrush, and systemic cryptococcal infection. Patient 2 was a 9-year-old white female who had recurrent cervical abscesses. Serum immunoglobulin determinations by radial immunodiffusion in both patients showed marked depression of IgG and IgA and marked elevation of IgM. A low molecular weight circulating monomeric IgM was demonstrated by immunoelectrophoresis and gel filtration in the second patient; this was not present in the first case. In vitro impairment of cellular immunity was observed in both patients. Administration of dialyzable leukocyte extracts (transfer factor) led to improvement of cell-mediated immunity in patient 1. The etiology of this syndrome apparently has several different genetic bases. These patients demonstrate heterogeneity in genetic, ethnic, immunologic, and other features of the syndrome.
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PMID:X-linked immunodeficiency with increased IgM: clinical, ethnic, and immunologic heterogeneity. 72 95

In this review I have described the pathophysiology of allergic disorders of the gastrointestinal tract. Situations where the intestine cannot be a complete barrier to foreign allergens and antigens were discussed and etiological factors of gastrointestinal allergy were detailed. Clinical features of gastrointestinal allergy include diarrhea, vomiting, abdominal pain and colic, intestinal hemorrhage and malabsorption as well as symptoms and signs outside the gastrointestinal tract such as chronic rhinitis and asthma in the respiratory system, urticaria, angioedema and eczema as dermatological signs, headache, insomnia, hyperkinesis as central nervous system manifestations, failure to thrive and anaphylaxis as constitutional reactions. Milk allergy was discussed as an example of food allergy. Immunology of the gastrointestinal tract was presented, with examples of four types of hypersensitivity reactions, and gastrointestinal disturbances of immunodeficiency disorders and syndromes were named. Lastly, the autoimmune mechanism and the gut were described, with particular discussion of ulcerative colitis as an example of an autoimmune disease.
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PMID:The intestine in allergic diseases. 78 84

A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive. His IgG and IgA levels were low, but his IgM was elevated. He also had undetectable isohaemagglutinin titre and neutropenia, both parameters being poor prognostic indicators in this very rare primary immunodeficiency state--antibody deficiency with hyper IgM. Our patient subsequently succumbed to Pseudomonas aeruginosa septicaemia and meningitis inspite of aggressive antibiotic and intravenous gammaglobulin therapy. To the best of our knowledge, this is the first such case to be documented in Malaysia.
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PMID:Antibody deficiency with hyper IgM--a case report. 130 25

Recurrent bacterial infections, lymphadenopathy, and failure to thrive are unlikely to be attributed to immune deficiency if they occur in the presence of hypergammaglobulinaemia, and other explanations will usually be sought. We describe eight patients who presented with all these features in infancy or early childhood. Deficiencies of immunoglobulin and antibody production were initially discounted, and the children were referred for investigation of possible lymphoma, autoimmune disease, or chronic viral infection. The patients were later referred to us for more detailed immunological investigation, which revealed low levels of IgG2 and poor specific antibody production to common pathogens. Treatment with intravenous immunoglobulin resulted in resolution of signs and symptoms in all patients. Thus we have shown that hypergammaglobulinaemia does not preclude the presence of immunoglobulin/antibody deficiency. We suggest that investigation of children with high levels of IgG and features of immunodeficiency should include IgG subclass analysis.
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PMID:Immunodeficiency presenting as hypergammaglobulinaemia with IgG2 subclass deficiency. 135 93

We reviewed the 22 cases of Mycobacterium avium-intracellulare (MAI) infection that occurred among 196 human immunodeficiency virus-infected children seen at the National Cancer Institute Pediatric Branch from December 1986 through April 1991, and an additional 65 charts from children with cultures negative for MAI. All patients with proven MAI were receiving antiretroviral therapy with zidovudine, dideoxyinosine, or a combination of zidovudine and dideoxycytidine. All patients had disseminated MAI infection, except one adolescent who had only evidence of localized lymphadenitis. All cases of MAI but one were diagnosed before death. The overall incidence of MAI was 11% in our patients but increased to 24% in patients whose absolute CD4 cell counts were < 100 cells/mm3. Symptoms most commonly associated with MAI infection included recurrent fever (86% of patients), weight loss or failure to thrive (64%), neutropenia (55%), night sweats (32%), and abdominal pain (27%). Children infected with MAI had a mean CD4 percentage of 2% (range, 0% to 7%) and a mean absolute CD4 count of 12 cells/mm3 (range, 0 to 48 cells/mm3), significantly lower than in the remainder of the clinic population or the group of children with cultures negative for MAI. Of 20 patients with MAI infection who were tested, 10 had measurable p24 antigen with a mean value 939 pg/ml (range, 77 to 3270 pg/ml) compared with 19 of 59 patients without MAI infection in whom the mean positive value was 413 pg/ml. There was no difference in survival time between those children with documented MAI infection (median survival time, 45.5 weeks) and those with similarly low CD4 counts and cultures negative for MAI (median survival time, 50.4 weeks). Future improvements in therapeutic options may make screening of pediatric human immunodeficiency virus-infected patients with low CD4 counts a reasonable plan.
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PMID:Defining the population of human immunodeficiency virus-infected children at risk for Mycobacterium avium-intracellulare infection. 143 13

We report the case of a child with a variant of the Omenn immunodeficiency syndrome. He presented with erythroderma, lymphadenopathy, hepatosplenomegaly, failure to thrive, and recurrent purulent infections. The immunological studies showed marked disturbances in the subpopulations and functions of T lymphocytes, which suggests a defect in T cell differentiation as the cause of the disease.
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PMID:A case of Omenn-like immunodeficiency syndrome. 147 28

A 4-month-old male infant had a 2-month history of an exfoliative erythroderma and alopecia. Recurrent mucosal infections, diffuse lymphadenopathy, hepatosplenomegaly, lymphocytosis and eosinophilia, anemia, and failure to thrive later developed. Investigation revealed a combined immunodeficiency with T cells of an unusual phenotype in his peripheral blood, skin, and lymph nodes. Our patient's clinical manifestations most closely resemble Omenn's syndrome, a rare form of autosomal recessive combined immunodeficiency.
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PMID:Omenn's syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive. 183 95

Enteropathogenic Escherichia coli (EPEC) infection is not generally thought to cause severe diarrhoea after the neonatal period. Patients admitted to Queen Elizabeth Hospital for Children over the three years (1984-7) with diarrhoea and EPEC infection were reviewed. Clinical details, features of small intestinal mucosa, and treatment were recorded in those who developed chronic diarrhoea with failure to thrive. Twenty six children with EPEC required hospital admission for diarrhoea and six of these (23%) developed chronic diarrhoea. In contrast only two (5%) of 42 with other serogroups of E coli (p less than 0.01) and 28 (4%) of 764 children without EPEC admitted with acute diarrhoea developed chronic symptoms (p less than 0.01). EPEC serogroups detected in the stool of the six children with chronic diarrhoea were 0128 in three, 0114 in two, and 0119 in one. The patients' clinical characteristics were: previous good health, no significant immunodeficiency, age 4-10 months, foreign travel (three of six), severe life threatening secretory diarrhoea from 0.5 to 1.5 1 per day (four of six), small intestinal enteropathy (five of six) three of whom showed mucosal adherent, non-invasive E coli of the same serotype as that in the stool, in association with microvillous loss and pedestal formation. All were treated with hypoallergenic feeds, two with parenteral nutrition, and three with parenteral antibiotics. All eventually recovered. EPEC infection is a common treatable cause of life threatening chronic diarrhoea in infancy.
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PMID:Enteropathogenic Escherichia coli and life threatening chronic diarrhoea. 186 33

Eight cases of mother-to-child transmission of HIV-2 were documented by ELISA and Western blot in Gambia between January 1988-September 1989 from a hospital-based screening of 205 malnourished children, 864 subjects in a malaria study, 34 patients with probable immunodeficiency and 24 children of 17 HIV-2 seropositive mothers. AIDS was diagnosed by WHO clinical definition. Diagnosis of HIV-2 was made if sera were positive by ELISA and Western blot (LAV Blot2, Diagnostics Pasteur, Marnes-La-Coquette, France) and negative by Wellcozyme I competitive ELISA to HIV-a (Wellcome Diagnostics, Dartford, UK). The children ranged in age from 17 months-5 years, and in ponderal index from 50-90%. 6 had CD4 percentages or counts below the normal range. 7 of the 8 could only have been infected pre- or perinatally, while 1 had been transfused from her mother. The clinical features included 5 with diarrhea 1 month; 3 with Cryptosporidium, 3 with Candida, a pneumonia, an interstitial pneumonia by x-ray, a streptococcus abscess, a staphylococcus abscess, 1 infant with failure to thrive and 1 4-year old who was asymptomatic. This group of patients was more severely affected than a series reported from Guinea Bissau: their mothers also had advanced AIDS in comparison to asymptomatic mothers in the other series. While mother-to-child transmission of HIV-1 occurs in approximately 33% of children of HIV-1 seropositive mothers, these data cannot estimate the actual rate of transmission of HIV-2.
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PMID:AIDS following mother-to-child transmission of HIV-2. 197 26


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