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 previously described patient with X-linked agammaglobulinemia and growth hormone deficiency developed an echovirus-associated meningoencephalitis and dermatomyositis-like syndrome while being treated with intramuscular gamma globulin and human growth hormone. Initiation of high-dose intravenous gamma globulin resulted in resolution of the clinical symptoms and the patient has remained asymptomatic over the past 55 months. Lymphocyte phenotype analysis at the time of presentation with echovirus infection revealed an increase in CD2+, CD16+, HNK-1+ lymphocytes, a decrease in CD4+ T cells as well as absence of B cells. This elevation in the LGL/NK phenotype resolved with clinical improvement. In addition, there was evidence of lymphocyte activation following the development of echovirus infection (increase in HLA-DR expression and elevated serum IL-2 receptor levels) which resolved with clinical improvement. A muscle biopsy obtained during the period of the dermatomyositis-like syndrome demonstrated a CD8+ lymphocytic infiltrate very similar to the observations in classical dermatomyositis. Taken together, these findings suggest that growth hormone therapy in this patient failed to alter the humoral immunodeficiency. In addition, serum IL-2 receptor levels and lymphocyte phenotyping may be useful adjuncts for monitoring echovirus disease in immunodeficient patients.
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PMID:Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis. 275 12

The differentiation status of T and B cells was evaluated in patients with common variable immunodeficiency (CVI), selective IgA deficiency (IgA), X-linked agammaglobulinemia (XLA), and the acquired immune deficiency syndrome (AIDS) with the use of conventional lymphocyte markers and four new monoclonal antibodies that identify lymphocyte subpopulations. These antibodies are HB 4, which identifies a subpopulation of resting B cells; HB 5, which identifies the C3d/EBV receptor on mature B cells; HB 7, which identifies immature B lymphocytes; and HB 10, which reacts with virgin but not activated or memory T cells. T and B cells from the IgA patients typically had normal phenotypic profiles, whereas diverse patterns of lymphocyte maturation were observed in CVI. In 11 of 16 CVI patients, B cells had normal antigenic phenotypes. Although B cells from four other CVI patients had normal frequencies of HB 5 and HB 7 antigen expression, few expressed the HB 4 antigen, suggesting that they were activated. In contrast, a large percentage of B cells from one CVI patient were of an immature phenotype. The expression of the HB 10 antigen by T cells in CVI patients was also variable, being normal in 10 of 16 patients, yet significantly decreased in six others. The vast majority of the limited numbers of IgM B cells from five XLA patients (greater than 100-fold reduction) has an immature phenotype (HB 4-5-7+). Interestingly, the circulating T cells in XLA patients were phenotypically similar to those in normal newborns, suggesting that T cell immaturity or defective T cell activation may occur in these B cell-deficient individuals. Circulating B cells from AIDS patients were mostly HB 7-, with variable expression of the HB 4 antigen and significantly decreased expression of the HB 5 antigen. Most of the T cells from AIDS patients were HB 10-, and thus appeared to be activated.
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PMID:Evaluation of lymphocyte differentiation in primary and secondary immunodeficiency diseases. 316 Jul 79

Three primary immunodeficiency conditions are discussed: X-linked agammaglobulinemia, severe combined immunodeficiency, and the X-linked lymphoproliferative syndrome. Each condition is associated with a fascinating history since publication of the original description. To a large extent, the immunologic features of these conditions have been defined. Now, the power of recombinant DNA technology is being employed to dissect the molecular mechanisms central to each disease. This review traces the history of these X-linked conditions. Particular emphasis is focused on the molecular defects thus far exposed. In the end, the knowledge provided by this technology will facilitate genetic counseling, define the nature of the gene defects, provide a logical rationale for therapy, and elucidate the role of the X chromosome in lymphocyte ontogeny.
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PMID:Molecular basis of selected primary immunodeficiency disorders. 331 86

We undertook this study to determine whether patients with late-onset hypogammaglobulinemia, who are at very high risk for gastric cancer, have a reduced secretion of gastrin after stimulation with food or bombesin, a potent gastrin-releasing stimulus. We compared the plasma gastrin responses to bombesin and to a standard test meal in 18 patients with late-onset hypogammaglobulinemia with those in patients with X-linked agammaglobulinemia, early-onset hypogammaglobulinemia, or hypogammaglobulinemia due to lymphoproliferative cancer, and in 30 normal control subjects. Thirteen of 18 patients with late-onset hypogammaglobulinemia (72 percent) had an abnormally low gastrin response to bombesin, as compared with none of 21 patients with other forms of hypogammaglobulinemia (P less than 0.05). After a test meal, abnormally low gastrin secretion was found in 6 of 14 patients with late-onset hypogammaglobulinemia (43 percent) and in 1 of 18 patients with other forms of the disease (6 percent) (P not significant). The plasma gastrin responses to stimulation with bombesin or food distinguished late-onset hypogammaglobulinemia from other forms, with sensitivities of 72 and 43 percent and specificities of 100 and 94 percent, respectively. Stimulated gastrin response can therefore be used as a marker for this type of immunodeficiency. The test responses also showed heterogeneity among patients with late-onset hypogammaglobulinemia and may help to identify patients with an increased risk for gastric cancer.
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PMID:Decreased gastrin secretion in patients with late-onset hypogammaglobulinemia. 337 28

One hundred and three cases of primary immunodeficiency diseases were diagnosed among children suffering mainly from chronic and severe infections in the period 1980-1987. Predominantly antibody defects were recognized in 48 patients (46.6%), combined immunodeficiencies in 36 patients (35%), phagocytic disorders in 12 patients (11.6%), complement defects in 6 patients (5.8%), and cell-mediated disease (Di George syndrome) in 1 patient. Allergic complications were observed in 25 patients (24.2%) and malignancy-in 3 patients (2.9%). More detailed immunological studies were performed in children with X-linked agammaglobulinemia in the course of intravenous immunoglobulin therapy and in children with ataxia telangiectasia.
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PMID:Primary immunodeficiency diseases in children treated in the Children's Memorial Hospital, Poland. 341 May 9

X-linked agammaglobulinemia (XLA) is a severe humoral immunodeficiency disease of man. The inheritance of the disease is X-linked recessive. Female carriers can not be distinguished by immunologic assays. We investigated the localization of the disease gene on the X chromosome, utilizing nine polymorphic X chromosomal markers. In a single eight generation pedigree we found close linkage of the disease gene to the restriction fragment length polymorphism (RFLP) recognized by the DNA probe p19-2; the maximum lod score was 3.30 at a recombination fraction of 0.06. Addition of the lod scores for p19-2 obtained from seven other XLA pedigrees did not show the expected increase of the total score. This suggested genetic heterogeneity. We used the p19-2 marker as a reference point to search for pedigrees which had the disease gene at a different location. One pedigree provided a lod score of -3.14 at a recombination fraction of 0.06 with the p19-2 marker. We postulate that XLA is not a single genetic entity.
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PMID:Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. 350 88

Patients with primary immunodeficiency disorders were evaluated for three aspects of natural defense: natural killer (NK) cells which lyse HSV-infected fibroblasts [NK(HSV-FS)], NK cells which lyse K562 tumor targets [NK(K562)], and interferon-alpha generation. In addition, capacity to make interferon upon challenge with other commonly used inducers was also evaluated. Most patients with severe combined immunodeficiency disease (SCID) and deficits of both T- and B-cell function demonstrated normal NK function with one or both targets. Six of eight SCID patients generated interferon-alpha at or below the lower limit of normal while only two made clearly normal levels. Six of 10 patients with Wiskott-Aldrich syndrome (WAS) had normal NK(K562) and five of 10 generated normal levels of interferon-alpha but all had severely deficient NK(HSV-FS). Patients with Bruton's agammaglobulinemia demonstrated normal NK and interferon generation, as did patients with common variable immunodeficiency, even when subdivided into patients with T-cell proliferative deficiencies and those with only hypogammaglobulinemia. Natural defense parameters may help categorize patients with SCID and WAS and help define these heterogeneous diseases.
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PMID:Natural killer cell function and interferon generation in patients with primary immunodeficiencies. 369 44

The complexity of IgE synthesis and regulation is expressed in the IgE serum levels of 81 patients with primary immunodeficiency diseases. IgE serum levels were often elevated in patients with partial cellular deficiency and also in some with predominantly antibody defect, as isolated IgA and IgM deficiency. The lowest levels were found in the wider spectrum immunodeficiencies, such as the X-linked agammaglobulinemia and severe combined immunodeficiency. Due to the heterogeneity and variability of the immunological defects, even in these well defined immunodeficiency diseases, it is very difficult to establish a typical feature of IgE serum levels in these conditions.
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PMID:[Behavior of immunoglobulin E in primary immunodeficiencies]. 409 42

Immunologic responses to bacteriophage varphiX 174 were studied in 26 patients with immunodeficiency diseases. In eight cases of infantile X-linked agammaglobulinemia, there was prolonged circulation of phage and no detectable antibody response. The remaining 18 patients cleared phage normally and produced antibodies. 10 of these patients made only IgM antibody in spite of repeated immunization; all of these have recurrent respiratory tract infections and require treatment with gamma globulin and antibiotics. Eight patients made both IgM and IgG antibody; they experience either milder or no infections, and only one requires treatment with gamma globulin. Prolonged circulation of bacteriophage varphiX 174 and the absence of a detectable antibody response appear to be distinguishing characteristics of X-linked agammaglobulinemia if severe combined immunodeficiency can be excluded.
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PMID:Immunologic responses to bacteriophage phi-X 174 in immunodeficiency diseases. 512 8

The therapeutical use of gammaglobulin preparations in inborn immunodeficiency syndromes should be performed critically and only if an immunoglobulin lack exists which can be substituted. Immunodeficiency defects are listed according to the WHO-classification. For substitution of immunoglobulins plasma or different gammaglobulin preparations may be applied. The preparation of intravenous applicable preparations by different methods results in changes of half live times. The most important humoral immunodeficiency syndromes are the transitory hypogammaglobulinemia of infancy, the pathological hypogammaglobulinemia with delayed maturation of immunoglobulin-synthesis, the infantile X-linked agammaglobulinemia (Morbus Bruton) and the X-linked immunoglobulin deficiency syndrome with hyper-IgM. Intravenously applicable gammaglobulin preparations are preferred in the therapy the last two mentioned antibody deficiency syndromes which require large volumes. It has been demonstrated recently that these preparations are also suitable for continuous substitution.
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PMID:[Therapeutical application of gammaglobulin preparations in inborn immunodeficiency syndromes (author's transl)]. 617 May 72


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