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)

Soluble CD8, soluble CD4, soluble CD25 (IL-2 receptor), beta 2-microglobulin and the cytokine tumour necrosis factor-alpha (TNF-alpha) were measured in sera from patients with common variable immunodeficiency (CVI). Levels of soluble CD8, soluble CD25 and beta 2-microglobulin but not of soluble CD4 and TNF-alpha were raised significantly above levels in normal sera. Sera from patients with X-linked agammaglobulinaemia, who are also antibody deficient, did not show this marked elevation. The raised levels of soluble CD8, soluble CD25 and beta 2-microglobulin in CVI, correlated with the extent of the defects in the B lymphocytes assessed in vitro, as well as with the clinical severity of the disease. The selective release of these molecules into sera may indicate that abnormal cellular activation occurs in most CVI patients. It is also possible that the raised levels of these soluble molecules play a part in the immunodeficiency.
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PMID:Raised serum levels of CD8, CD25 and beta 2-microglobulin in common variable immunodeficiency. 193 93

Six human immunodeficiency diseases have been associated with the X chromosome by family studies. Genetic mapping with restriction fragment length polymorphisms (RFLPs) has permitted assignment of these diseases to specific loci on the X chromosome. Each of the disease entities maps to a single locus, confirming that the diagnostic criteria describe single diseases. X-linked chronic granulomatous disease and Wiskott-Aldrich syndrome map to loci on the short arm of the X chromosome; X-linked severe combined immunodeficiency, X-linked agammaglobulinemia, X-linked immunodeficiency with hyper-IgM, and X-linked lymphoproliferative syndrome map to loci on the long arm. Lyon's hypothesis predicts that these X-linked immunodeficiencies may be detectable in carriers of the diseases as a result of X chromosome inactivation of the normal disease gene. Four of the immunodeficiency diseases, X-linked agammaglobulinemia, X-linked severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and X-linked chronic granulomatous disease, affect cellular development so that carriers have a monomorphic population of immunocytes. The specific immunocyte development affected in carriers varies according to the disease. Genetic mapping of the diseases, with a collection of informative RFLPs, provides a tool that permits probability-based prenatal diagnosis. Carrier detection complements the RFLP-based genetic mapping, serving to confirm X-linkage in carriers.
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PMID:X chromosome linked immunodeficiency. 198 31

Congenital deficiencies that involve the lymphocyte system are complex and represent abnormalities in genetic control or gestational development. Only the more common prototypes of these diseases will be discussed. Diseases of the B cell system presented include X-linked agammaglobulinemia, selective IgA deficiency, IgG subclass deficiency, and common variable immunodeficiency. T cell defects discussed are Di-George syndrome and severe combined immunodeficiency. Also mentioned briefly are HIV infection and the increasing problem of AIDS. Diagnostic evaluation and general principles of treatment of these diseases are considered.
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PMID:Evaluation and management of B and T cell abnormalities. 204 Apr 45

Primary B-cell immunodeficiency is relatively frequent and may result in recurrent bacterial infections involving notably the respiratory tract, and in chronic severe enteroviral infections in patients with agammaglobulinaemia. Selective IgG2 isotype deficiency results in pneumococcal, Haemophilus influenzae and pseudomonal infections, since it is associated with defective production of antibodies that are specifically directed against bacterial capsular polysaccharides. Progress has recently been achieved in the determination of genetic and molecular bases of some of these immunodeficiencies. In X-linked agammaglobulinaemia, the abnormal gene has been located on the long arm of the X chromosome (Xq22-23); the intrinsic B-cell abnormality blocks differentiation at the pre-B stage, before the genes coding for light chain immunoglobulins are rearranged. There is now a strong suspicion that IgA deficiency, hypoglobulinaemia with variable expression and some selective IgG isotype deficiencies are three ways of expressing one single abnormality a genetic factor of which is located in the class III region of the HLA complex and perhaps also associated with HLA class II DQ. Treatment of deficient IgG production with intravenous immunoglobulin has thoroughly altered the prognosis of these diseases. Complete IgA deficiency carries a risk of accident by production of anti-IgA antibodies, which means that patients with isolated IgA deficiency should not be treated, that these antibodies should systematically be looked for in patients with IgA deficiency associated with partial deficiency of other immunoglobulins, and that these patients should be treated with IgA-free immunoglobulin preparations.
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PMID:[Primary immune deficiencies of B-lymphocytes]. 204 14

To determine the best predictors of chronic pulmonary disease in patients with hypogammaglobulinemia, we evaluated the clinical records, chest x-ray films, and pulmonary function tests of 10 patients with X-linked agammaglobulinemia (XLA) followed for a mean of 12.5 years, and 12 patients with common variable immunodeficiency (CVID) followed for a mean of 10.5 years. These patients, most of whom were treated with intramuscular gamma globulin and long-term oral antibiotics, had very few pneumonias after diagnosis. The patients with XLA had 0.10 pneumonias per treatment year, and the patients with CVID had 0.18 pneumonias per treatment year. Seven of the 10 patients with XLA had normal chest x-ray films 8 to 15 years after diagnosis, and none had bronchiectasis. Pulmonary disease was more common and more severe in the group with CVID, but five patients in this group also had normal chest x-ray films after long follow-up. In the entire group of 22 patients, nine of the 10 patients with abnormal chest x-ray films on most recent evaluation already had pulmonary disease at the initial visit (p = 0.00002). These studies indicate that the best predictors of good pulmonary function in patients with hypogammaglobulinemia are early diagnosis and good compliance with gamma globulin replacement therapy and oral antibiotics.
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PMID:Retrospective analysis of the incidence of pulmonary disease in hypogammaglobulinemia. 207 89

Carrier detection of three of the X-linked primary immunodeficiency diseases (X-linked agammaglobulinemia, X-linked severe combined immunodeficiency disease, and the Wiskott-Aldrich syndrome) is possible by analyzing patterns of X-chromosome inactivation in those cells affected by the disorder. Normal women have balanced patterns of X-chromosome inactivation; that is, in a given population of cells, approximately half of their active X chromosomes are of paternal origin and half of their active X chromosomes are of maternal origin. In contrast, female carriers of these X-linked immunodeficiency disorders have an unbalanced pattern of X-chromosome inactivation in those cell lineages that are affected by the disorder; that is, all the active X chromosomes in affected cell lineages are the X chromosomes that carry the normal allele. Two techniques are available for X-chromosome inactivation analysis. One technique depends on methylation differences between the active and inactive X chromosome, and the other technique uses somatic cell hybrids that selectively retain the active X chromosome. In either case, carrier detection can be performed in individuals from families in which only one member of the family has been affected, since neither of these methods depends on linkage analysis.
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PMID:Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis. 219 94

Humoral (or antibody) immunodeficiency syndromes may occur as apparent congenital or acquired abnormalities, with deficiencies in all or in only some classes of immunoglobulins. Most patients are recognized because of recurrent infections with high-grade extracellular encapsulated bacterial pathogens, but some with selective IgA deficiency or with transient hypogammaglobulinemia of infancy may have few or no infections. Although general population statistics are not available, most defects are thought to be rare; humoral immunodeficiency is more prevalent than cellular immunodeficiency, possibly due to early death from the latter defects. Disorders affecting B-cell function may be inherited as X-linked recessive or as autosomal traits. Although considerable information exists about such defects at a functional and cellular level, the primary biologic errors are as yet unknown for all of them. Apparent abnormalities of B-cell maturation and/or intrinsic B-cell malfunction are seen in a majority of these defects. The heterogeneity of B-cell morphology and function in large pedigrees of patients with X-linked agammaglobulinemia makes it unlikely that the defect is due to a distinct gene rearrangement abnormality at a specific stage of B-cell maturation. Early recognition of B-cell deficiency and institution of adequate immunoglobulin replacement therapy can prevent extensive damage to the lungs and other life-threatening problems from infection and allow a relatively normal childhood and adult life.
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PMID:Humoral immunodeficiency. 242 51

X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disorder affecting only male subjects. There is an absence of all serum immunoglobulins and circulating B cells. T-cell function and numbers are normal. The clinical characteristics are recurrent pyogenic infections starting in infancy, hypoplasia of lymphoid tissue and a family history in about half the cases. Ten patients with XLA have been seen over the last 14 years at Red Cross War Memorial Children's Hospital, Cape Town. Chronic infections causing significant morbidity occurred in half our patients and 2 have died. Intravenous of gammaglobulin replacement therapy is superior to the intramuscular form. The recommended dose is 200-400 mg/kg/mo., although the optimal dose and frequency of the gammaglobulin infusion should be individualised for each patient.
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PMID:X-linked agammaglobulinaemia. 248 Jun 50

The function of B cells and highly purified T-cell subpopulations was studied in patients with various primary humoral immunodeficiencies. In the presence of normal T4+ cells B cells of the patients with X-linked agammaglobulinemia (XLA) were not capable either for IgM or IgG synthesis, whereas B cells of the patient with hyper-IgM syndrome and three of eight patients with common variable immunodeficiency (CVI) could produce normal amounts of IgM, but not IgG. All patients with XLA and the patient with hyper-IgM syndrome exhibited normal helper function by T4+ cells for both IgG and IgM synthesis of normal B cells. The function of CVI T4+ cells was variable. When the function of the patients' T8+ cells was tested against normal B cells, one CVI patient had overactive suppression capacity; in other patients the suppressor cell activity was normal. The findings indicate considerable heterogenicity in the function of lymphocyte subpopulations of the CVI patients.
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PMID:Regulatory T-cell function in primary humoral immunodeficiency states. 256 91

We have defined the clinical presentation and course of X-linked agammaglobulinemia (X-LA) by means of a multi-center retrospective survey of 96 patients. Infections were the most common presenting feature of patients with X-LA. The most frequent infections involved the upper respiratory tract (75%), lower respiratory tract (65%), gastrointestinal tract (35%), skin (28%), and central nervous system (16%). Clinical clues to the diagnosis of X-LA were the chronic or recurrent nature of infections, a family history of immunodeficiency, and infections at more than one anatomic location. Infections remained a significant problem after the diagnosis of X-LA was made and gamma-globulin prophylaxis had been instituted. One or more chronic infectious diseases occurred in 71% of patients. The respiratory tract was the most common site of disease, and the gastrointestinal tract was relatively spared. Patients died at a mean age of 17 years. The two major causes of death were chronic pulmonary disease with resultant cardiac failure, and disseminated viral infections which characteristically caused a dermatomyositis-like syndrome, hepatitis, pneumonitis, and meningoencephalitis.
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PMID:X-linked agammaglobulinemia: an analysis of 96 patients. 258 Nov 10


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