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

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

The Wiskott-Aldrich syndrome is an X-linked immunodeficiency disorder consisting of the triad of frequent infections, eczema, and profound thrombocytopenia. We evaluated the effects of splenectomy on hemostatic improvement and subsequent clinical course in 16 patients with the Wiskott-Aldrich syndrome. All 16 had an increase in platelet counts to at least 100,000 per cubic millimeter after splenectomy, with the mean increasing from 19,900 per cubic millimeter preoperatively to 262,700 per cubic millimeter after splenectomy. In addition, platelet size, which is characteristically small in this disease, also became normal. Survival after splenectomy correlated with the prophylactic use of antibiotics. Five of seven patients not taking prophylactic antibiotics died of sepis within 33 months of surgery. The mean survival of the nine patients maintained with prophylactic antibiotics, however, was at least 91.4 months, with six of these patients still alive an average of 11.0 years or more after splenectomy. Thus, splenectomy is a useful therapy for a major cause of morbidity and mortality in this complex syndrome.
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PMID:Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. 676 87

We present the immunological studies on 2 patients, one with the Wiskott-Aldrich syndrome and another with common variable hypogammaglobulinemia. Although these patients represent two different immunodeficiency defects, both had a subpopulation of peripheral lymphocytes which had simultaneously T and B characteristics. Their peripheral blood mononuclear cells had a low responsiveness to polyclonal mitogens. We suggest that these unusual cells represent a subpopulation of suppressor cells or of immature T cells, which may have an essential role in the pathogenesis of these immunodeficiencies.
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PMID:A subpopulation of lymphocytes with T and B cell characteristics. Observations on two different cases of immunodeficiency. 676 18

A histologic review was undertaken of 35 lymphoreticular disorders that developed in primary immuno-deficiency patients from the Immunodeficiency Cancer Registry. Twenty-one (60%) of the lesions were non-Hodgkin's lymphomas: these included eight B-immunoblastic sarcomas. Eight (23%) of the lesions were Hodgkin's disease, with a high frequency of lymphocytic depletion type in an unusually young age group. Three lesions (8.5%) represented abnormal proliferative processes, which could not be definitely categorized as either benign or malignant. There were only two acute lymphoblastic leukemias (6%). Differences were found between lymphomas arising in Wiskott-Aldrich syndrome and those occurring in ataxia-telangiectasia; this suggests that different pathogenetic mechanisms might operate in their development. The lymphomas in Wiskott-Aldrich syndrome were all of non-Hodgkin's type, predominantly B-immunoblastic sarcomas, and presented as localized extranodal infiltrates. The lymphomas in ataxia-telangiectasia were either Hodgkin's disease, mostly of lymphocytic depletion type, or non-Hodgkin's lymphomas of the histologic subtypes associated with 14q translocations.
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PMID:Lymphoreticular disorders in primary immunodeficiencies: new findings based on an up-to-date histologic classification of 35 cases. 696 49

A neutralization-resistant variant of human immunodeficiency virus type 1 (HIV-1) that emerged during in vitro propagation of the virus in the presence of neutralizing serum from an infected individual has been described. A threonine-for-alanine substitution at position 582 in the gp41 transmembrane envelope glycoprotein of the variant virus was responsible for the neutralization-resistant phenotype (M.S. Reitz, Jr., C. Wilson, C. Naugle, R. C. Gallo, and M. Robert-Guroff, Cell 54:57-63, 1988). The mutant virus also exhibited reduced sensitivity to neutralization by 30% of HIV-1-positive sera that neutralized the parental virus, suggesting that a significant fraction of the neutralizing activity within these sera can be affected by the amino acid change in gp41 (C. Wilson, M. S. Reitz, Jr., K. Aldrich, P. J. Klasse, J. Blomberg, R. C. Gallo, and M. Robert-Guroff, J. Virol. 64:3240-3248, 1990). It is shown here that the change of alanine 582 to threonine specifically confers resistance to neutralizing by antibodies directed against both groups of discontinuous, conserved epitopes related to the CD4 binding site on the gp120 exterior envelope glycoprotein. Only minor differences in binding of these antibodies to wild-type and mutant envelope glycoproteins were observed. Thus, the antigenic structure of gp120 can be subtly affected by an amino acid change in gp41, with important consequences for sensitivity to neutralization.
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PMID:Resistance to neutralization by broadly reactive antibodies to the human immunodeficiency virus type 1 gp120 glycoprotein conferred by a gp41 amino acid change. 750 84

The X-linked immunodeficiency Wiskott-Aldrich syndrome (WAS) is a condition that includes a deficient anti-polysaccharide Ab response. Recently, it has been suggested that B cells from patients with WAS show a defective calcium mobilization response upon engagement of sIgM. Because primarily EBV-transformed cells were used in these studies, we tested freshly isolated blood B cells for their calcium mobilization capability upon engagement of sIg and CD19. No significant differences in the calcium mobilization capability of CD20+ B cells of four individual WAS patients compared with capability in normal controls were found. Receptor desensitization as assessed by calcium mobilization inhibition also seemed to be intact. T cells were tested for their anti-CD3-induced calcium flux and, again, no abnormalities could be observed when compared with T cells from healthy individuals. We conclude that WAS B and T cells can be stimulated into a normal calcium mobilization response when their AgRs are cross-linked. It is highly improbable that the immune dysfunction observed in WAS patients is related to a direct disorder of their B and/or T cell AgRs.
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PMID:Antigen receptor-mediated transmembrane signaling in Wiskott-Aldrich syndrome. 751 27

The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.
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PMID:Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. 753 15

Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by immunodeficiency, thrombocytopenia, and severe eczema. WAS is a life-threatening disease, with a poor quality of life and high mortality rate in childhood. The gene responsible for the disease has been localized to the proximal short arm of the X-chromosome and recently isolated through positional cloning and named WAS protein (WASP). We have characterized 17 WAS families. We have developed a rapid, nonradioactive screening protocol for identifying WASP gene alterations in genomic DNA. Our method allows simultaneous evaluation of single strand confirmation polymorphism and heteroduplex formation. We have identified 15 novel mutations that involve single basepair changes, or small insertions or deletions, all of which result in premature stop cordon, frame shift with secondary premature stop codon, or splice site defect. These studies document the considerable heterogeneity of the location of mutations in the WASP gene causing full-blown WAS and show the efficiency and rapidity of a screening approach for mutation identification in WAS that will be useful for carrier detection and prenatal diagnosis.
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PMID:High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. 757 29

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, recurrent infections, and immunodeficiency. Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency. Because the gene responsible for WAS has been sequenced, it was possible to correlate the WAS phenotypes with WAS gene mutations. Using a fingerprinting screening technique, we determined the approximate location of the mutation in 13 unrelated WAS patients with mild to severe clinical symptoms. Direct sequence analysis of cDNA and genomic DNA obtained from patient-derived cell lines showed 12 unique mutations distributed throughout the WAS gene, including insertions, deletions, and point mutations resulting in amino acid substitutions, termination, exon skipping, or splicing defects. Of 4 unrelated patients with the XLT phenotype, 3 had missense mutations affecting exon 2 and 1 had a splice-site mutation affecting exon 9. Patients with classic WAS had more complex mutations, resulting in termination codons, frameshift, and early termination. These findings provide direct evidence that XLT and WAS are caused by mutations of the same gene and suggest that severe clinical phenotypes are associated with complex mutations.
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PMID:The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 757 47

Two males of 3 and 3 1/2 years of age with the Wiskott-Aldrich syndrome who underwent bone marrow transplantation from an HLA compatible brother following conditioning treatment with busulphan and cyclophosphamide are described. In both patients the taking of the graft was proven by study of blood subgroups and correction of the immunodeficiency, normalization of platelet number and function and disappearance of cutaneous eczema were seen. At 3 and 1 year respectively of the transplantation the patients showed no evidence of graft versus host disease and no severe infections or hemorrhagic episodes have seen.
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PMID:[Allogenic bone marrow transplantation in Wiskott-Aldrich syndrome]. 774 1


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