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1/7. nijmegen breakage syndrome diagnosed as Fanconi anaemia.

    BACKGROUND: Fanconi anaemia (FA) and nijmegen breakage syndrome (NBS) are rare chromosomal instability disorders with overlapping clinical features. It has recently been shown that, like FA, NBS is also associated with increased chromosomal sensitivity to dna cross-linking agents. PROCEDURE: We report a family that was initially diagnosed with FA on the basis of increased sensitivity to dna cross-linking agents. They were atypical in that there were associated severe infection problems. In view of these features we performed immune function studies together with molecular analysis of the FA genes and subsequently the NBS1 gene. RESULTS: Two children in the kindred have died, one from sepsis, and the other with a plasma cell malignancy. A third child underwent bone marrow transplantation because of recurrent infections. All affected members had severe immunological abnormalities. The genetic defect was shown to be a novel mutation in the NBS1 gene, so the diagnosis was revised to that of NBS. CONCLUSIONS: This family illustrates the importance of awareness of the lack of specificity of dna cross-linking agent tests for FA, particularly in situations where the clinical features are atypical. In addition, one of the cases represents the first use of bone marrow transplantation for NBS that we are aware of; this treatment may have a future role for other patients with the syndrome.
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2/7. Graft-vs-host reaction.

    Observations surrounding the clinical manifestations and pathological studies of a neonate who died at 9 weeks of age, indicate that distinctive cutaneous, histopathologic, and ultrastructural findings occur when graft-vs-host reaction (GVHR) complicates combined immune deficiency syndrome (CIDS). The prominence and specificity of the epidermal lesions, particularly a necrotic cell that occurs in association with satellite lymphocytes ("satellite cell necrosis" (SCN)), lead us to recommend that a cutaneous biopsy be performed to facilitate an early definitive diagnosis. Dermatologists can recognize GVHR at the bedside and establish the diagnosis with the pathological findings obtained from the skin biopsy.
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3/7. Demonstration of Epstein-Barr virus in immunoblastic sarcoma of B-cells arising in a child with primary immunodeficiency disease.

    The subject of this investigation was an 11-month-old infant girl who presented with a pathological fracture of the right femur due to a metastasis from an abdominal immunoblastic sarcoma. Her past history included recurrent, intractable bacterial and fungal infections. Investigations of her immune status revealed low numbers of t-lymphocytes, a reversed T-helper (TH)/T-suppressor (TS) cell ratio, no response of her peripheral blood lymphocytes to pokeweed mitogen, phytohemagglutinin, concanavalin a, and candida albicans, and an inability of her cells to react in a mixed lymphocyte culture. serum levels of IgG, IgM, and IgA were all below normal. No thymic shadow was visible on the chest radiograph. There was no evidence of adenosine deaminase or nucleoside phosphorylase deficiencies. The tumor cells exhibited both surface IgM and IgG, and many of the cells contained large amounts of cytoplasmic IgM. light chain specificity was restricted to lambda chain for both surface and cytoplasmic immunoglobulin. Ultrastructural study of the tumor cells revealed the presence of both intranuclear and cytoplasmic virions in roughly 1% of the tumor cells. These viral particles strongly resembled herpes viruses. dna-hybridization studies on the neoplasm revealed the presence of 7-10 genome equivalents of Epstein-Barr virus-dna per tumor cell.
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4/7. Ulcerative colitis in a patient with anti-B lymphocytotoxin and hypogammaglobulinemia.

    Lymphocytotoxins (LCT) have been recently reported in the serum of patients with inflammatory disease of the bowel, but up to now these antibodies have shown no specificity for B or T lymphocyte subpopulations. A 32-year-old patient with chronic ulcerative colitis, primary hypogammaglobulinemia and a very low number (0.5 to 1.5%) of B lymphocytes in peripheral blood is described. The presence in the serum of a LCT reacting specifically with B cells was demonstrated by cytotoxicity and direct immunofluorescence experiments. Intestinal immunofluorescence studies indicated a dichotomy between blood and gut immunoglobulins, and showed a heterogeneous distribution of plasma cells of the three major classes from the jejunum to the rectum. The significance of the association of hypogammaglobulinemia, chronic ulcerative colitis, and anti-B LCT is discussed. To explain the dissociation between blood and gut immunoglobulins, it is suggested that the intestine was, in this patient, a privileged site for differentiation of B cells.
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5/7. Guidelines for immunotherapy of antigen-specific defects with transfer factor.

    Dialyzable leukocyte extracts (DLE) containing transfer factor (TF) with documented specificity for one or more microbial antigens have shown previously variable clinical effectiveness in treating many infectious diseases caused by viruses, fungi, protozoa and mycobacteria. The efficacy has sometimes been strong, and at other times dubious, in treating patients with inherited or presumably "acquired" immunodeficiency diseases refractory to standard therapy. The recent development of assays for screening leukocyte donors of DLE, for monitoring recipients, and especially for determining the potency of various DLE preparations containing antigen-specific TF and for predicting the clinical course of disease have, in our hands, greatly improved the likelihood of successful immunotherapy with TF. Two representative cases are reported, one involving a patient with an antigen selective defect to Candida, and another involving a patient with an antigen selective defect to mycobacterium fortuitum. Both patients responded as judged by laboratory tests and clinical improvement when treated with certain DLE preparations but not with others. Finally, certain DLE preparations appeared to suppress cell-mediated immunity in vivo and this suppression could be predicted by in vitro tests. Based on these results, guidelines for optimal therapy with DLE are proffered .
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6/7. DR-positive maternal engrafted T cells in a severe combined immunodeficiency patient without graft-versus-host disease.

    A 2 1/2-year-old male infant with severe combined immunodeficiency was documented by HLA typing and the presence of a female karyotype in the few spontaneously dividing cells to have an intrauterine-derived maternal lymphocyte graft. The presence of DR antigens on the engrafted maternal E rosette-forming T cells was demonstrated by both cytotoxicity and immunofluorescence techniques using both conventional and monoclonal antihuman DR antisera. These DR antigens were of the same allospecificity, DR4, as the mother's peripheral blood B cells. The patient's B cells and monocytes expressed DR alloantigens DR4 and DR3, corresponding to his genotype. Although fresh maternal lymphocytes react strongly in vitro against patient non-T cells, the engrafted maternal T lymphocytes no longer show this activity. Furthermore, clinical evidence suggesting mild graft-versus-host disease was completely resolved by the end of his first year. The presence of the DR-positive maternal cells may reflect the survival of a group of activated suppressor cells mediating graft tolerance of host tissue.
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7/7. Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay.

    A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease has been investigated by assay of adenosine deaminase activity in cultured amniotic fluid cells using a microradioassay. A low-normal level of activity consistent with heterozygote status in the foetus was found and confirmed after birth by assay of red cell and fibroblast adenosine deaminase activities. It is suggested that the radioassay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric procedure.
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