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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lymphocytes from patients with primary immunodeficiency were tested histochemically for ecto 5'-nucleotidase (5'N) and alpha-naphthyl (non-specific) esterase. More than half the patients with 'common variable' hypogammaglobulinaemia, all those with X-linked hypogammaglobulinaemia and some of those with selective IgA deficiency had a very low percentage of lymphocytes staining for 5'N as compared to controls. A lack of B cells probably explains the finding in X-linked hypogammaglobulinaemia, but does not fully explain the results in the other groups. Most patients with 'common variable' hypogammaglobulinaemia had a very low percentage of lymphocytes with granular staining for alpha-naphthyl (non-specific) esterase in contrast to normal numbers in those with X-linked hypogammaglobulinaemia and most of those with selective IgA deficiency. Granules containing non-specific esterase are characteristically found in 'mature' T lymphocytes. The enzyme abnormalities in the T and B cells of 'common variable' hypogammaglobulinaemic patients could be explained by 'immature' cell types.
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PMID:Histochemical studies for 5'-nucleotidase and alpha-naphthyl (non-specific) esterase in lymphocytes from patients with primary immunoglobulin deficiencies. 46 56

In a boy initially diagnosed as X-linked hypogammaglobulinemia, the later clinical and analytical course and the application of new immunological techniques led to the new diagnosis of common variable immunodeficiency. The patient shows panhypogammaglobulinemia, a scarce number of plasma cells with a normal number of precursors and circulating B lymphocytes with membrane bound immunoglobulins and C3 receptors. Delayed hypersensitivity is absent despite normal amount of circulating T lymphocytes which were able to transform when stimulated by PHA. The anergy seems primary and not related to the clinical malnutrition. The authors make a differential diagnosis between both illnesses as a tentative pathogenetic interpretation of B cell development arrest.
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PMID:[Common variable immunodeficiency (author's transl)]. 121 95

This study has investigated the patterns of membrane 2H4 (CD45RA) and UCHL1 (CD45RO) expression by CD4+ and CD8+ lymphocyte subpopulations in 10 adults and seven children with common variable immunodeficiency (CVI) and X-linked hypogammaglobulinaemia (XLA). Of the 10 adults (CVI, n = 8; XLA, n = 2), only one with a diagnosis of CVI showed normal CD45R expression. For the remaining seven adult CVI patients the abnormal CD45R profiles were primarily associated with CD4+ lymphocytes in three and CD8+ lymphocytes in four. Specific increases in CD45RA- CD45RO+ fractions were found in four CVI patients and in all of these there was a concomitant reduction in circulating CD19+ B-cell numbers. Two of the CVI cases were identical twin sisters and both had the same CD45R abnormality. The two adults with XLA also showed abnormal CD45R expression (increased CD45RA+ CD45RO- components) but of particular note, in view of the fact that these were brothers, one was associated with the CD4+ subpopulation and the other with the CD8+ fraction. Similar analyses for the paediatric group revealed, in distinct contrast to the adult patients, no significant abnormalities of CD45R expression suggesting that these defects may not become apparent until a later age. Further investigations of in vitro lymphocyte proliferation (PHA and PWM) in the eight adults with CVI showed a significant correlation between abnormal responses and disordered CD45R expression. It is proposed that these abnormal patterns of CD45R expression by lymphocyte subpopulations in CVI and XLA may be of fundamental importance with respect to the pathogenesis of these particular immunodeficiencies.
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PMID:Abnormal CD45R expression in patients with common variable immunodeficiency and X-linked agammaglobulinaemia. 138 25

Serum neopterin levels were analysed in 43 patients with primary hypogammaglobulinaemia (25 common variable immunodeficiency (CVI), 12 congenital hypogammaglobulinaemia (CH), six X-linked hypogammaglobulinaemia (XLH)), and in 33 healthy controls. The neopterin values were correlated to lymphocyte subset counts in peripheral blood, lymphocyte mitogen responses and clinical and histological manifestations in the study group. Serum neopterin levels were significantly elevated in all subgroups of patients and particularly in the CVI groups where the highest concentrations were found (P less than 0.001, CVI versus controls). Furthermore, in CVI and CH patients elevated neopterin levels were strongly correlated to decreased number of CD4+ lymphocytes (rs = -0.61, P less than 0.005 and rs = -0.83, P less than 0.001, respectively). In the CVI group high neopterin levels were also significantly correlated to low number of circulatory B (CD19+) lymphocytes (rs = -0.58, P less than 0.05). Both patients with moderately and those with severely depressed lymphocyte mitogen responses had significantly higher neopterin levels than those with normal responses. In addition, high neopterin levels were significantly associated with the occurrence of splenomegaly and nodular intestinal lymphoid hyperplasia. The immunological findings were consistently observed in longitudinal testing, and appeared to be characteristic for the individual patient. High serum neopterin levels are thought to be a marker for hyperactivity in monocytes/macrophages, and dysfunction of these cells may therefore be associated with fundamental immune pathology in some subgroups of primary hypogammaglobulinaemia.
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PMID:Raised serum neopterin levels in patients with primary hypogammaglobulinaemia; correlation to other immunological parameters and to clinical and histological features. 163 65

The occurrence of cancer, immunodeficiency, and diseases with possible autoimmune aetiology were studied in 355 blood relatives of 12 patients with common variable immunodeficiency (CVID). The family members were identified through the patients and interviewed after completing a questionnaire, their diseases were medically confirmed by local general practitioners. In two families consanguineous marriages were identified with the coefficients of inbreeding of 0.03125 and 0.01563, respectively: one patient, a dizygotic twin of an unaffected sister, was a granddaughter of first cousins, the second patient was the third daughter of second cousins. These cases of CVID strongly support the autosomal recessivity of the underlying genes. One male patient with CVID was shown to be related to a patient with X-linked hypogammaglobulinaemia, both sharing a common carrier. The different clinical courses of their diseases suggest two genetically determined immunodeficiencies and genetic heterogeneity. No family had an unusual clustering of cancer. The occurrence of tumours in the blood relatives of CVID patients was not significantly higher than in the relatives of spouse controls. Immunological examination of 30 first degree relatives of the CVID patients revealed three children (2 males and 1 female) with selective IgA deficiency, in one boy combined with elevated serum IgE level. Four relatives with rheumatoid heart disease, 12 cases of gastric or duodenal ulcer, and 14 relatives with thyroid disease represented the most often encountered diagnoses with a possible autoimmune component in their aetiology.
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PMID:Family studies in common variable immunodeficiency. 188 Apr 4

"Immune regulation: what immunodeficiency disease has taught us" is reviewed by discussing three immuno-deficiency disorders. Hypogammaglobulinemia, the first documented primary immunodeficiency disorder, has a well defined and uniform clinical presentation which reflects a variety of underlying abnormalities involving the B cell, T cell, and monocyte. X-linked hypogammaglobulinemia, transient hypogammaglobulinemia of infancy common variable immunodeficiency, and their pathogenesis are discussed. Combined immunodeficiency with adenosine deaminase (ADA) deficiency first led to the now accepted concept that a biochemical abnormality may result in immunodeficiency. The clinical presentation, possible biochemical abnormalities resulting in the observed immunodeficiency, relative selectivity of the defect for the immune system, and potential applications of knowledge gained from the study of ADA deficiency are presented. Acquired immunodeficiency (AIDS) has resulted in the concept that a virus is cytopathic for a specific population of T cells and that this, at least in part, results in the immunodeficiency seen in AIDS.
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PMID:Immune regulation: what immunodeficiency disease has taught us. 298 76

Epstein-Barr virus has been used as a B cell mitogen to explore the parallels between the B cells found in patients with hypogammaglobulinemia and the immature B cells in fetal tissues. Peripheral blood lymphocytes from 29 cases of late onset hypogammaglobulinemia (common variable immunodeficiency) and from 10 cases of X-linked hypogammaglobulinemia were depleted of T lymphocytes and stimulated with virus in vitro. Immunoglobulin production was measured over a 4-week culture period using inhibition radioimmunoassays for IgM, IgG, IgA and IgD. The results were compared with those seen with fetal liver cells, cord blood lymphocytes and adult lymphocytes. Virus-stimulated cells from fetal sources produced small amounts of IgG and IgA relative to IgM, the ratio of IgM to IgG in the second week being in all cases greater than 10. Similar patterns were seen in 25/29 cases of late onset hypogammaglobulinemia, and in the eight cases of X-linked hypogammaglobulinemia that responded in vitro. In contrast, the ratio of IgM to IgG was always less than 8 in cultures of normal adult peripheral blood or bone marrow lymphocytes, and also in cultures from four cases of hypogammaglobulinemia known independently to have abnormal circulating suppressor cells. Eight cases of selective IgA deficiency showed reduced IgA production; six of these showed a normal ratio of IgM to IgG production. Thus, the B lymphocytes which circulate in many patients with hypogammaglobulinemia are functionally immature.
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PMID:Immature B cells in fetal development and immunodeficiency: studies of IgM, IgG, IgA and IgD production in vitro using Epstein-Barr virus activation. 628 97

There are two ways to find the cause of primary immunodeficiency diseases. One approach is to start with the immune defect and work backwards, using in vitro techniques to define where the primary abnormality lies in the immune response. Immunologists favour this approach for obvious reasons; and it is not without virtue since, for example, it has shown that the defect in most cases of primary hypogammaglobulinaemia is due to a failure of B lymphocyte maturation. The alternative approach is to screen empirically for defects in biochemical pathways in the hope of finding a clue which will eventually lead to the underlying disorder. This is a sensible approach in diseases which are clearly inherited (e.g. X-linked hypogammaglobulinaemia) but is less attractive in a disease such as late onset hypogammaglobulinaemia which is not obviously inherited. In practice, such procedures involve screening the urine for abnormalities in the quality or quantity of excreted compounds. Another way is to screen for abnormalities in organelle integrity by measuring the activity of various enzymes in subcellular fractions. In reality, the clue to the metabolic defect is usually discovered by accident, the prime example in our field being the discovery of adenosine deaminase (ADA) deficiency.
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PMID:Metabolic defects in immunodeficiency diseases. 629 Jan 13

Lung transplantation is an established procedure to treat patients with end-stage lung disease. The criteria for recipient selection are broadening to include patients with congenital defects of the immune system, such as X-linked hypogammaglobulinemia (XLA). We report 2 cases of successful double lung transplantation in patients with XLA. The 2 men had developed bronchiectasis and end-stage lung disease despite early institution of intravenous immunoglobulin (IVIG) replacement therapy. Before transplantation, hypogammaglobulinemia was well controlled with IVIG in both patients. After transplantation, IVIG was administered every 48 hours during the first 10 days and then tapered slowly in the following weeks until returning to an every 3 weeks schedule. One patient has been followed up for 12 months and the other for 6 months. Lung function normalized in the first case and showed a restrictive pattern in the second one. Lung transplantation may be considered as a therapeutic option for patients with XLA and end-stage lung disease. Regular administration of IVIG overcomes the high risk of infections due to the severe immunodeficiency and the intensive immunosuppressive therapy.
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PMID:Lung transplantation in patients with x-linked agammaglobulinemia. 1296 57

X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLH-GHD, OMIM # 307200) is a primary immunodeficiency disorder characterized by pan-hypogammaglobulinemia and isolated growth hormone deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory and genetic features of the disease as they have unfolded over the past quarter century since its description.
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PMID:X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. 1791 49


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