Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Selective IgM deficiency was diagnosed in a 3-month-old Standardbred colt that was referred for chronic respiratory tract disease. Immunoglobulin quantification revealed normal IgG and IgA concentrations, but undetectable IgM concentration. Stimulation of blood lymphocytes with the T-cell mitogens concanavalin A and phytohemagglutinin yielded results within the normal range. However, stimulation with the B-cell mitogen lipopolysaccharide produced no response. A B-cell defect similar to that associated with several immunodeficiency disorders in people was suggested as the cause of the IgM deficiency in this colt.
 ...
PMID:Selective IgM deficiency and abnormal B-cell response in a foal. 142 87

Most cases of selective IgA deficiency (IgA-D) and common variable immunodeficiency (CVID) occur sporadically. However, familial clustering is not uncommon, and the two disorders can occur within the same family. We have previously described positive associations with three DR-DQ haplotypes as well as a strong negative association with DRw15,DQw6,Dw2 in IgA-D. Different amino acids at position 57 of the HLA-DQ beta chain were found to be related to susceptibility and resistance to IgA-D. Now we have found identical, although somewhat weaker, positive and negative DR-DQ associations in a large group of CVID patients (n = 86), as well as the same associations with codon 57 of the DQB1 gene. In addition, we have confirmed our earlier observations in an independent group of IgA-D individuals (n = 69), and in sib-pair analysis we have found linkage of the genetic susceptibility to IgA-D to the HLA class II region. In IgA-D individuals not carrying the three overrepresented DR-DQ haplotypes, the same positive association with a non-aspartic acid residue at position 57 of the HLA-DQ beta chain was seen. The previously reported associations with deletions of the HLA class III genes C4A (fourth component of complement) and CYP21P (steroid 21-hydroxylase pseudogene) were, in our groups of immunodeficient individuals, statistically secondary to the association with the DQB1 allele 0201. The shared HLA class II associations in the two humoral immunodeficiencies support the hypothesis that IgA-D and CVID are related disorders. Disease susceptibility and resistance are most closely associated with a gene(s) within the DR-DQ region, alleles of the DQB1 locus being candidate genes.
 ...
PMID:Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency. 143 61

Cow milk-sensitive enteropathy is a temporary disorder of infancy characterized by a variably abnormal small intestinal mucosa while milk is in the diet. This abnormality is reversed by a cow milk-free diet, only to recur on challenge. Important predisposing factors are age (< 3 years), transient IgA immunodeficiency, atopy, and early bottle feeding. The disorder is diagnosed histologically by evidence of mild-to-moderate partial villous atrophy with thin, often patchy mucosa. For an accurate clinical diagnosis, challenge with the offending food after a demonstrated response to cow milk elimination is critical. When available, serial small intestinal bowel biopsies related to elimination and challenge are also important. Treatment is elimination of cow milk and all foods based on cow milk, and substitution of cow milk feedings with commercially available formulas free of cow milk protein. Five types of cow milk substitutes are described; only nutritionally complete formulas are recommended. Later, a milk challenge will determine the timing of safe reintroduction of cow milk to the diet, at a time when the child is gaining weight, thriving, and symptom free. This dietary treatment is always temporary; reintroduction of a normal diet is nearly always possible between 1 and 2 years of age.
 ...
PMID:Cow milk-sensitive enteropathy: predisposing factors and treatment. 144 27

In 37 intravenous drug users (IVDUs) in the first stages of HIV-infection (17 in stage II and 20 in stage III according to CDC), compared with 32 IVDUs HIV-negatives, we found a significant decrease in circulating leucocytes (p less than 0.01), lymphocytes (p less than 0.005), platelets (p less than 0.005), serum albumin (p less than 0.005), and C3 (p less than 0.02) and significant increase in serum gammaglobulins (p less than 0.0005) and IgG (p less than 0.0005). On the other hand no difference was observed in hemoglobin and in IgA levels; nevertheless an inverse relationship between serum IgA and CD4+ lymphocytes was present in HIV-positive (HIV+) patients (r = -0.34; p = 0.04). This observation agrees with that is observed in the advanced stages of HIV-infection, which presents an increase in IgA serum levels. In these stages this fact could be due to a decrease of secretory IgA, with a deficient barrier effect; the consequent recirculation of intestinal antigens should enhance the antibody production, as well as serum IgA. In the IVDUs HIV-infected a reverse correlation between albumin serum levels and the length of HIV-positivity (r = -0.44; p = 0.008) and a direct correlation between albumin serum levels and circulating CD4+ lymphocytes (r = 0.37; p = 0.05) were present. There was no direct linear relationship between albumin serum levels and creatinine, on the contrary to what was observed in the control group. The decrease of albumin levels could have a prognostic value as in other clinical conditions, in which it is associated with a higher mortality risk. Many factors could act to decrease albumin levels, but the most important one is perhaps the malnutrition of HIV-infected patients that can also be present in the first stages of infection, negatively influencing the associated immunodeficiency.
 ...
PMID:Serum albumin and others parameters in intravenous drug users HIV-infected. 149 83

This study suggests the possibility that the intracellular parasite Chlamydia trachomatis (Ct) may facilitate the transmission of the human immunodeficiency virus (HIV) during vaginal or rectal intercourse. This is based on the following findings: a) elevated titers of anti-Ct IgG are present in symptomatic acquired immunodeficiency syndrome (AIDS) patients; b) elevated titers of anti-Ct IgA are found in asymptomatic AIDS patients; c) low anti-Ct IgA titers were observed during the progression of the disease; d) high titers of anti-Ct IgA were found in patients suffering from autoimmune diseases; e) high levels of C3 fraction of the complement are found in many of the Ct patients. The presence of anti-Ct IgA and high C3 may be crucial since IgA inactivates Ct and C3 which may increase the invasion of HIV into the cells. This activity of IgA and C3 in Ct patients may increase the susceptibility of male homosexuals and other risk groups in the population to AIDS.
 ...
PMID:Possible relationship between Chlamydia trachomatis and acquired immunodeficiency syndrome. 150 89

Tissue-type plasminogen activator, von Willebrand factor, and plasminogen-activator inhibitor type 1 plasma levels were measured at first consultation in 85 consecutive patients infected with human immunodeficiency virus. Patients were assigned to three groups according to clinical status: mild disease group, intermediate group, and acquired immunodeficiency syndrome group. Significant differences were found in von Willebrand factor, tissue-type plasminogen activator, and plasminogen-activator inhibitor type 1 plasma levels among the three groups: severe clinical status was associated with higher von Willebrand factor, tissue-type plasminogen activator, and plasminogen-activator inhibitor type 1 plasma levels. Significant correlations were found among these three parameters, such known biologic prognostic indicators of human immunodeficiency virus infection as IgA, anti-p24 antibodies, p24 antigenemia, CD4+ lymphocytes, beta 2-microglobulin, and the clinical status. The prognostic relevance of plasma von Willebrand factor and tissue-type plasminogen activator levels at the time of entry into the study was then investigated in a cohort of 65 of the 85 patients who had follow-up during a median period of 22 months. The median survival time for all patients was 39 months after the first consultation. A plasma von Willebrand factor level greater than 200% of the control value had a positive predictive value of 86% for determining nonsurvivors; the median survival time for such patients was 9 months after the first consultation. A positive predictive value of 100% in recognizing nonsurvivors was found for tissue-type plasminogen factor plasma levels greater than 20 ng/ml; the median survival time for these patients was 2 months after the first consultation.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:von Willebrand factor antigen, tissue-type plasminogen activator antigen, and risk of death in human immunodeficiency virus 1-related clinical disease: independent prognostic relevance of tissue-type plasminogen activator. 151 88

A 10-month-old Arabian foal was evaluated for a suspected immunoglobulin (Ig) M deficiency. Decreased to nondetectable concentrations of IgM, IgA, and IgG (T), and a normal concentration of IgG, were present. Results of in vitro testing of the blood lymphocyte blastogenesis showed a weak response to the B-cell mitogen, lipopolysaccharide (LPS), but normal responses to T-cell mitogens. Results of postmortem examination showed synovitis of the left tibiotarsal and both scapulohumeral joints. Atrophy and edema of the lymph nodes and lymphocyte depletion in the thymus and spleen were seen. A subacute inflammatory infiltrate was observed in the kidney, synovium, liver, and brain. Etiologic agents were not identified. This case represents a previously unreported form of immunodeficiency disease in the horse.
 ...
PMID:Unusual selective immunoglobulin deficiency in an Arabian foal. 152 50

A 9-year-old boy is presented who was antibody positive for human immunodeficiency virus (HIV) and who had recurrent episodes of gross hematuria. Renal biopsy revealed findings typical of IgA nephropathy but also showed electron-microscopic abnormalities seen with HIV-associated nephropathy. In addition, IgA antibodies to multiple HIV proteins were detected in serum by Western blot analysis, and circulating immune complexes of the IgA class were present. Although HIV-associated nephropathy and IgA nephropathy are thought to be distinct conditions, five adults with a similar combination of findings have been reported, and our patient adds to the evidence for a link between these two entities in some patients. We propose that the histological parallels between the conditions may merely represent the limited renal responses available to multiple types of injuries, and we support the attempts underway to probe renal tissue for the HIV genome.
 ...
PMID:IgA nephritis in a child with human immunodeficiency virus: a unique form of human immunodeficiency virus-associated nephropathy? 153 39

After infection with human immunodeficiency virus (HIV)-1, virus can be recovered from both whole saliva (the total fluid contents of the mouth) and individual major salivary gland secretions. The concentration of virus is low, and recovery is infrequent. Antibodies (primarily of the IgA class) to HIV-1 are found in saliva. Despite the presence of virus, the oral cavity does not appear to be a route of transmission for HIV-1. This may relate to protective properties of saliva. It has been reported that whole saliva and mixed submandibular/sublingual secretions inhibit the infectivity of the virus in vitro. HIV infection also induces alterations in salivary gland function. Both salivary output and composition may be affected.
 ...
PMID:Salivary gland involvement in HIV-1 infection. 154 11

Immunodeficiency with hyper-IgM (HIM) is a rare disorder characterized by recurrent infections associated with low IgG and IgA, and normal to increased IgM serum levels. Both primary and secondary forms of HIM syndrome have been reported. Among primary HIM syndrome, evidence for genetic heterogeneity is provided by the occurrence of the disease as X-linked, autosomal recessive, or autosomal dominant trait. The most common clinical manifestations include upper and lower respiratory tract infections, otitis, diarrhoea, oral ulcers, lymphoid hyperplasia, and autoimmunity. Recurrent neutropaenia is a frequent finding. Immunological abnormalities consist of lack of IgG and IgA secretion, and failure to respond to vaccination. Lymph nodes show absence of germinal centres. Few patients with a concurrent T-cell defect, and clinical expression of combined immune deficiency, have been reported. The gene responsible for the X-linked HIM syndrome (HIGM1) has been tentatively assigned to Xq24-27. However, carrier detection and prenatal diagnosis are not yet possible. Pathogenetic hypotheses include failure of B-cell differentiation, and defective regulation of immunoglobulin isotype switching due to abnormal T-cell-mediated signals. Treatment is mainly based upon regular administration of intravenous immunoglobulins. Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations.
 ...
PMID:Immunodeficiency with hyper-IgM (HIM). 155 97


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>