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

Immunodeficiency disorders can be classified on clinical grounds into two broad groups according to whether all features are the result of the immune defect (immunodeficiency syndromes) or whether many, even prominent, features cannot be explained by the immune defect (syndromes with immunodeficiency). X-linked agammaglobulinemia and X-linked chronic granulomatous disease are paradigmatic examples of immunodeficiency syndromes. Despite some overlap (for instance extra-immune symptoms, although minor, are present in several variants of severe combined immunodeficiency and chronic granulomatous disease) immunodeficiency syndromes and syndromes with immunodeficiency are easily distinguishable. Together with the pathogenetic classification of the WHO, the present approach to a clinical classification amplifies the operational concept of immunodeficiency also from a therapeutic point of view.
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PMID:Immunodeficiency and syndromes: a nosographic approach. 621 52

A panel of previously characterized monoclonal antibodies: OKT3, OKT4, OKT8, OKT10, OKT11, OKIa1, OKM2; 3A1, 4F2, UCTH1 and 5/9 were used to evaluate peripheral blood mononuclear cells in patients with severe primary immunodeficiencies: three patients with severe combined immunodeficiency, five with X-linked agammaglobulinemia, 20 with common variable hypogammaglobulinemia, 11 with IgA defect, and one with an unclassified form of T cell defect and hypogammaglobulinemia. Surface markers for T and B cells and in some cases functional assays, were also performed. Our results indicate a heterogeneous pattern in patients with severe combined immunodeficiency: one had peripheral blood mononuclear cells negative with all the monoclonal antibodies used; one had an increase in OKM2+ cells, whereas OKT3+ cells were absent; one had defect and imbalance of immunoregulatory T cell subpopulations. Major imbalances of T cell subsets were not detected in patients with X-linked agamma and IgA defect, whereas in some patients with common variable hypogammaglobulinemia an inversion of the physiological ratio between OKT4+ and OKT8+ cells was consistently detected. In an unclassified case of primary immunodeficiency, almost all peripheral blood mononuclear cells formed rosettes with sheep erythrocytes, but lacked antigens detected by monoclonal antibodies. Based on these observations, possible sites of defects in the T cell differentiation are discussed. We believe that monoclonal antibodies are useful for diagnosis, classification, and monitoring of therapy of primary immunodeficiencies.
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PMID:Monoclonal antibody analysis of T cell subsets in 40 patients with immunodeficiencies. 621 27

The characteristics of rotavirus infection in 23 children with a variety of primary immunodeficiency diseases were studied. Stools and sera were tested for rotavirus by means of the enzyme-linked immunosorbent assay and the enzyme-linked fluorescent assay, respectively. Four immunodeficient patients had diarrhea during the study period and all had rotavirus infection; rotavirus was not detected in the stools of the 19 asymptomatic immunodeficient patients. Forty-six control children with diarrhea were tested and 22 had rotavirus infection; rotavirus was not detected in 39 asymptomatic control children. One immunodeficient patient with X-linked agammaglobulinemia and one with severe combined immunodeficiency had chronic, symptomatic rotavirus infection with rotavirus excretion lasting more than six weeks. The other two immunodeficient patients and eight control children eliminated the rotavirus from their stools in periods ranging from two to 12 days. Rotavirus antigen was detected in the sera of three of the four immunodeficient patients; none of the 14 control infants tested had rotavirus antigen detected in their sera. This study indicates that rotavirus may produce a chronic infection in immunodeficient children.
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PMID:Chronic rotavirus infection in immunodeficiency. 624 73

Venous blood mononuclear cells from 42 children with primary immunodeficiency disorders and from controls matched for age were studied for lymphocyte subpopulations by E rosetting, surface immunoglobulin, and a panel of anti T cell monoclonal antibodies (OKT series). In 3 cases of severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency, very few circulating T or B cells were found. The other 7 cases of SCID all had normal or, in 3 cases, very high numbers of circulating B cells, but in 6 of these very few cells showed T cell markers. One child had very high numbers of B cells and T cells with an immature pattern of reactivity similar to that found on common thymocytes. In T cell deficient children no consistent pattern was found, but in those with cartilage hair hypoplasia with immunodeficiency there was a low helper (OKT4) to suppressor (OKT8) ratio and high numbers of circulating OKT10 positive cells. In cases of X-linked agammaglobulinaemia circulating B cells were not found but the pattern of T cell markers was normal. In cases of common variable hypogammaglobulinaemia there was a wide scatter of helper (OKT4) to suppressor (OKT8) cell ratios. Five children were studied before and after treatment with the synthetic thymic hormone preparation TP5. There were appreciable alterations in the pattern of staining with anti T cell monoclonal antibodies in 4 of these cases, but in 1 case only was this accompanied by improvements in clinical and immune function.
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PMID:Lymphocyte subpopulations in primary immunodeficiency disorders. 634 3

The proportion of T-cell subsets was normal in all patients with X-linked agammaglobulinemia except for an 8-month patient who showed a decrease in OKT8+ T-cell population. In two patients with hypogammaglobulinemia with IgM production, T-cell subsets were normal in distribution and the patients' B cells produced only IgM in culture with autologous T cells. A patient with common variable immunodeficiency showed no imbalance in distribution of T-cell subsets. Imbalance of regulatory T-cell subsets was found in a patient with DiGeorge syndrome and severe combined immunodeficiency.
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PMID:T-cell subsets analyzed by monoclonal antibodies in patients with primary immunodeficiency diseases. 637 67

Circulating levels of T-cell subsets and NK cells were determined in 78 patients with primary immunodeficiencies, 35 children with recurrent respiratory infections, and healthy age-matched controls. Normal T cell and natural killer (NK) cell values were observed in individuals with immunoglobulin A (IgA) deficiency and X-linked agammaglobulinemia, while reduced OKT4/OKT8 cell ratios and low levels of 5/9+ T helper cells were found in approximately 60% of patients with common variable immunodeficiency. Infants with severe combined immunodeficiency (SCID) and lymphopenia had virtually no cells expressing T-cell or NK-cell surface antigens, but had normal numbers of monocytes and other types of blood cells. Infants with DiGeorge syndrome, other primary T-cell defects, or SCID with B cells had few or no circulating cells of mature T helper-suppressor phenotypes, but had normal numbers of NK cells (HNK-1+) and NK function. These results support the idea of a common stem cell precursor for T, B, and NK cells, each of which follows a separate pathway of differentiation. Profound alterations were observed in the distribution and function of T-cell subsets in ataxia-telangiectasia patients who were previously shown to have thymic dysplasia. A significant reduction in the frequencies of OKT3+ and OKT4+ cells was observed in children with frequent respiratory infections during infancy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Usefulness of monoclonal antibodies in the diagnosis and monitoring of patients with primary immunodeficiencies: combined experience in three clinical immunology centers. 638 70

Lymphocyte and neutrophil locomotion were studied in 23 patients with well defined, primary immunodeficiencies. These included eight patients with common variable immune deficiency, three patients with X-linked agammaglobulinaemia, two patients with the Wiskott-Aldrich syndrome, three patients with ataxia telangiectasia, three patients with immunodeficiency and normal serum immunoglobulin concentrations, one patient with immune deficiency and hyper-IgM syndrome, two patients with Job syndrome and one patient with a granulocyte adherence defect. Random and stimulated lymphocyte and neutrophil migration were evaluated. C5a and casein were used to stimulate lymphocyte migration and C5a and formyl-methionyl-leucyl-phenylalanine (f-MLP) were used to stimulate neutrophil migration. Significantly depressed lymphocyte migration in response to casein and C5a was observed in patients with common variable immune deficiency, patients with immune deficiency and normal immunoglobulin concentration, and patients with Job syndrome. No consistent defect in lymphocyte locomotion was observed in the other patients studied. Neutrophil migration in response to C5a and f-MLP was depressed in Job syndrome, the patient with a granulocyte adherence defect, one of the six patients with common variable immune deficiency and none of the remaining patients. No significant correlation of skin test reactivity and lymphocyte migration was noted, but a correlation between the degree of lymphocyte proliferation in response to phytohaemagglutinin and lymphocyte migration in response to casein was observed. The results presented indicate that aberrations in lymphocyte migration occur in several types of immunodeficiency diseases and that defects in lymphocyte and neutrophil migration can occur simultaneously or totally independent of each other.
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PMID:Abnormalities of lymphocyte locomotion in immunodeficiency disease. 661 60

Campylobacter fetus subspecies jejuni (CBJ) has been recently recognized as a common pathogen in bacterial gastroenteritis in children. During a period of 16 months, 51 cases of C fetus subspecies jejuni gastroenteritis were diagnosed. Five of the children in whom the cases were diagnosed were previously known to be immunodeficient: two had X-linked agammaglobulinemia, one had agammaglobulinemia, one had combined immunodeficiency, and one had transient hypogammaglobulinemia. Average duration of fever and diarrhea was longer in the five immunodeficient children (15 and 23 days, respectively) compared with the normal children (four and five days, respectively). Excretion of C fetus subspecies jejuni in stool persisted for 20 to 27 days in four of the immunodeficient children and for one year in the fifth, whereas normal children excreted C fetus subspecies jejuni for only four to 16 days. Campylobacter fetus subspecies jejuni may be added to the list of bacterial pathogens most likely to infect immunodeficient children, especially those with a defect of the humoral system.
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PMID:Campylobacter enteritis in normal and immunodeficient children. 686 33

A series of monoclonal antibodies to T cell surface antigens were used to characterize peripheral lymphoid populations from patients with a variety of immunodeficiency diseases. Several disorders of T cell differentiation were observed to occur in severe combined immunodeficiency. One subtype of severe combined immunodeficiency was associated with failure to develop lymphocytes that express any thymus specific antigens, another with failure to differentiate beyond the early prothymocyte-thymocyte (T9+, T10+) stage, while a third subtype was associated with failure to differentiate beyond a late thymocyte (T3+, T4+, T5+/T8+, T10+) stage. In contrast, patients with thymic aplasia (DiGeorge syndrome) had a diminished but detectable population of mature T cells. Imbalances in immunoregulatory T cells with a relative excess of suppressor cells were found in 9 of 17 patients with spontaneously occurring acquired agammaglobulinemia. In one of the latter individuals, there was an activated suppressor T cell population expressing Ia antigens (T+/T8+, Ia+). Another had no inducer T4+ cells. Patients with X-linked agammaglobulinemia frequently had an abnormal ratio of inducer to suppressor cells as well as an absence of circulating surface immunoglobulin-bearing cells. No such abnormalities were noted in normals or individuals with selective immunoglobulin (Ig)A deficiency. Taken together, these findings support the notion that several immunodeficiency states may occur as a consequence of defective T cell maturation or imbalances in immunoregulatory T lymphocyte subpopulations.
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PMID:Abnormalities of T cell maturation and regulation in human beings with immunodeficiency disorders. 697 77

Bruton's tyrosine kinase (BTK) is a nonreceptor tyrosine kinase critical for B cell development and function. Mutations in BTK result in X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. Using a random mutagenesis scheme, we isolated a gain-of-function mutant called BTK* whose expression drives growth of NIH 3T3 cells in soft agar. BTK* results from a single point mutation in the pleckstrin homology (PH) domain, where a Glu is replaced by Lys at residue 41. BTK* shows an increase in phosphorylation on tyrosine residues and an increase in membrane targeting. Transforming activity requires kinase activity, a putative autophosphorylation site, and a functional PH domain. Mutation of the SH2 or SH3 domains did not affect the activity of BTK*. Expression of BTK* could also relieve IL-5 dependence of a B lineage cell line. These results show that transformation activation and regulation of BTK are critically dependent on the PH domain.
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PMID:Activation of Bruton's tyrosine kinase (BTK) by a point mutation in its pleckstrin homology (PH) domain. 753 39


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