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)

A new X-linked recessive lymphoproliferative syndrome has variable phenotypes: fatal infectious mononucleosis (I.M.), agammaglobulinaemia after I.M., American Burkitt's lymphoma, histiocytic lymphoma, immunoblastic sarcoma of B cells, or plasmacytoma. An immunodeficiency to rubeola and the Epstein-Barr virus probably ensues from the mutant gene. The phenotypes (spectrum of B-cell disorders) have a common inheritance and the aetiology is similar.
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PMID:Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome. 6 16

Pathomorphologic findings in an 11 month old boy with severe combined immunodeficiency (case 1) and in a 4-month old boy with reticular dysgenesia (case 2) are reported. Case 1: The bone marrow exhibited regular granulo-, erythro- and thrombopoiesis. The hypoplastic thymus consisted exclusively of epithelial reticulum cells. The spleen and lymph nodes showed considerable depletion of lymphocytes in both the T- and B-cell areas. There was a complete lack of all lymphatic structures in the gastrointestinal tract and aplasia of the tonsils. Death resulted from Candida sepsis in conjunction with giant cell pneumonia closely resembling Hecht's pneumonia in measles. Case 2: The bone marrow showed a total lack of granulopoiesis. The storngly dysplastic thymus weighed only 1 g. The spleen, the lymph nodes and the gastrointestinal tract exhibited a very strange histologic structure resulting from a complete absence of lymphocytes and plasma cells. The tonsils were aplastic, the para-thyroid glands as well as the other endocrine glands were normally developed. The cause of death was Klebsiella sepsis and Pneumocystis pneumonia, the latter without the characteristic interstitial plasma cell infiltration. The importance of the immune system for activation of the nonspecific mechanisma of defense is discussed with respect to the two types of immunodeficiency states described here.
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PMID:Pathomorphologic findings in severe combined immunodeficiency and reticular dysgenesia. 81 95

Subtle immunodeficiency to infectious agents including measles virus and ten Epstein-Barr virus (EBV) has been described in the X-linked recessive lymphoproliferative syndrome. This syndrome has affected six male cousins and possibly another boy. Three brothers died of an infectious mononucleosis syndrome, in a maternal cousin agammaglobulinemia developed three years after infectious mononucleosis, and two half-brothers of the Duncan kindred died of lymphoma of the brain and intestinal tract, respectively. In three of the boys, unusual measles viral infections had developed. Paramyxovirus-like particles suggestive of measles virus were seen at necropsy in the atrophic lymphoid tissue of two boys. Also, numerous plasma cells were seen in the brains, visceral organs and the thymus glands, and thymic-dependent lymphocytes were sparse in lymph nodes and spleen. The abnormal lymphopoiesis in the syndrome probably results from a subtle immunodeficiency, and concurrent measles and EB virus infections.
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PMID:Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome. 83 2

Seventy-five patients with multiple sclerosis (MS) were treated for complement components C3, after factor B, C4, and tested for HLA-A and B-determinants. Levels of IgG, IgA, IgD, IgE and titres of measles antibodies were also determined. Correlations between these immunological values and HLA determinants could be obtained in siblings, parents and/or children of the patients in 13 families. B18 frequency is strongly associated with the hypocomplementaemic group (x2 = 8.9). An association of B18 with the population of cases with low B levels is also found (x2 = 8.02). Familial data showed that low C3 and/or low B levels are associated with the HLA haplotyes, especially with those containing B18. A "complement abnormality susceptibility gene", linked to the HLA genes, is postulated. Infections are significantly more frequent in families of hypocomplementaemic MS, the existence of a genetic immunodeficiency affecting the synthesis of the complement components, linked to the HLA determinants. In 1 case studied in this article, a heterozygous C2 deficiency linked to HLA-A10, B18 was found and might confirm this hypothesis.
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PMID:Hypocomplementaemic and normocomplementaemic multiple sclerosis. Genetic determinism and association with specific HLA determinants (B18 and B7). 88 65

A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
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PMID:[Incomplete Digeorge syndrome (author's transl)]. 98 6

One of the most important aspects of preparing travelers for destinations throughout the world is providing them with immunizations. Before administering any vaccines, however, a careful health and immunization history and travel itinerary should be obtained in order to determine vaccine indications and contraindications. There are three categories of immunizations for foreign travel. The first category includes immunizations which are routinely recommended whether or not the individual is traveling. Many travelers are due for primary vaccination or boosting against tetanus-diphtheria, measles-mumps-rubella, pneumococcal pneumonia, and influenza, for example, and the pre-travel visit is an ideal time to administer these. The second category are immunizations which might be required by a country as a condition for entry; these are yellow fever and cholera. The final category contains immunizations which are recommended because there is a risk of acquiring a particular disease during travel. Typhoid fever, meningococcal disease, rabies, and hepatitis are some examples. Travelers who are pregnant or who are infected with the human immunodeficiency virus require special consideration. Provision of appropriate immunizations for foreign travel is an important aspect of preventing illness in travelers.
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PMID:Immunizations for foreign travel. 133 7

An explanation is provided for the male predominance in incidence of infectious diseases in children. A theoretical and mathematical model for predicting sex ratios for different prevalences of increased susceptibility to infectious disease in males is presented. The theoretical model states that males are more likely to experience symptomatic disease due to an increased prevalence of a factor such as immune deficiency. Variables are the proportion infected, the ratio of symptomatic (clinical) to asymptomatic (subclinical) infections, and the prevalence of males with increased susceptibility to infectious disease. Data included incidence of viral hepatitis, shigellosis and salmonellosis between 1966-85 and viral meningitis between 1971-85 by age and sex for Israeli Jews and nonJews. Other data for shorter time periods included poliomyelitis (1958-62), measles (1976-85), and diphtheria (1958-70). Single years of age were used for those 0-4 years. In diseases where vaccination has reduced the case load, the male to female incidence ratio was estimated with incidence density computed for the whole time period. The results of the analysis showed that male incidence 5 years in all 3 bacterial and 4 viral diseases was higher. The incidence ratios showed an excess of 20-100% for infectious diseases. This consistent pattern is not apparent in the literature because sex differences may be difficult to detect among symptomatic diseases; i.e., measles. There is also a lower symptomatic to nonsymptomatic infection ratio and small sex incidence ratio for shigellosis, salmonellosis and viral hepatitis. Where the symptomatic to nonsymptomatic ratio is about 1:50 or 1:100, the male to female incidence ratio will be much higher at about 2:1 and more readily detected. The immunodeficiency prevalence among males as an explanation for the susceptibility of males for diseases was not supported by an excess frequency of 2-3% in overt symptoms, although it is still considered a viable hypothesis. It is suggested that the inconsistencies in reports on male predominance in infectious diseases may be an artifact of statistics showing variability in the proportion of symptomatic infectious diseases. The implications are that comparisons should be made between the sexes. The disease rates may be biased by different proportions of males in the study and placebo groups in vaccine testing. Sex differences and disease should be examined further.
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PMID:The male predominance in the incidence of infectious diseases in children: a postulated explanation for disparities in the literature. 142 96

This study reports the course of measles and results of measles immunization in a cohort of human immunodeficiency virus-infected children. Six cases of measles were identified. All had typical clinical manifestations, 5 of 6 developed pneumonia and 3 of 6 died. A measles intervention program consisting of serologic screening and active immunization (measles-mumps-rubella (MMR)) was instituted in 1990. Among 127 children with data available for analysis (mean age, 6.7 years), only 35% had documentation of prior immunization with MMR. Among 80 children who had preimmunization measles serology reported, 56% were measles antibody-negative and 40% were antibody-positive; following intervention 36% remained measles antibody-negative. Six children lost measles antibody over time. MMR nonresponders had lower CD4 lymphocyte counts (303 +/- 394) compared with responders (865 +/- 677; P = 0.0058). Measles is a potentially fatal illness in human immunodeficiency virus-infected children. Prevention strategies are limited by low rates of age-appropriate MMR immunization, poor antibody responses to MMR in older human immunodeficiency virus-infected children and seroreversion.
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PMID:Population-based study of measles and measles immunization in human immunodeficiency virus-infected children. 146 90

Ten, hitherto unreported, analogues of 1-beta-D-ribofuranosyl-1,2,4-triazole-3-carboxamidine hydrochloride (2a, ribamidine) and methyl carboximidate 5 have been synthesized. These include the N-cyano (2b), N-alkyl (2c-e), N-amino acid (2f-h), N,N'-disubstituted (6, 7a,b), and the N-methylated carboxamide (1f) analogues of ribavirin. In addition, a new facile synthesis of carboxamidine 2a was also developed. All compounds were evaluated for biological activity against the following RNA viruses: Punta Toro (PT) and sandfly fever (SF) viruses (bunyaviruses); Japanese encephalitis (JE), yellow fever (YF), and dengue-4 viruses (flaviviruses); parainfluenza type 3 (PIV3), respiratory syncytial virus (RSV), and measles viruses (paramyxoviruses); influenza A and influenza B viruses (orthomyxoviruses); Venezuelan equine encephalomyelitis virus (VEE, alphavirus); human immunodeficiency virus type-1 (HIV-1, lentivirus); the DNA-containing vaccinia (VV) virus (poxvirus); and adeno type 5 (Ad5) viruses. All of the compounds except for 2b and 7a,b exhibited activity against the bunyaviruses such as that observed with 2a; however, higher IC50 values were generally observed. Glycine analogue 2f showed activity in PT-virus-infected mice in terms of increased survivors and decreased markers of viral pathogenicity. Carboxamidine 2a, carboximidate 5, and dimethyl amidine 6 exhibited activity against dengue type-4 virus. Monomethyl amidine 2c demonstrated activity against RSV, PIV3, and, to a lesser extent, influenza A and B. Activity of 2c generally required higher IC50 values than unsubstituted 2a. The latter exhibited hitherto unreported activity against RSV; therapeutic indices for 2a against RSV and PIV3 were greater than 64 and greater than 21. No substantial in vitro activity was observed for any of the compounds tested against Ad5, measles, JE, YF, VEE, or HIV-1. In addition, evidence is presented which argues in favor of a distinct antiviral mechanism of action for carboxamidines, e.g. 6, in contrast to a role as a carboxamide precursor.
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PMID:Synthesis and antiviral evaluation of N-carboxamidine-substituted analogues of 1-beta-D-ribofuranosyl-1,2,4-triazole-3-carboxamidine hydrochloride. 150 8

A 14-year-old girl has been suffering from an isolated adrenocorticotropin hormone (ACTH) deficiency with secondary glucocorticoid deficiency and common variable immunodeficiency since the age of 6.6 years. Human corticotropin releasing hormone administration did not increase ACTH and cortisol levels, strongly suggesting a pituitary deficiency. Despite the profound humoral defect, severe infections have never developed and the antibody response to herpes viruses was intact. We speculate that the association between two rare disorders, simultaneously diagnosed 2 months after measles, is not coincidental but caused by close interactions between neuro-endocrine and immune systems.
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PMID:Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. 164 68


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