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1/76. association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.

    Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. This report describes the association of bilateral sensorineural deafness with this disease.
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2/76. Unsuspected pneumocystis carinii pneumonia at presentation of severe primary immunodeficiency.

    BACKGROUND: pneumocystis carinii is an important pathogen in immunodeficiency but may be an unrecognised cause of respiratory compromise. OBJECTIVES: To ascertain the incidence of P carinii pneumonia (PCP) at presentation of severe combined immunodeficiency (SCID), whether it had been diagnosed, and the effect of treatment on outcome. SETTING: The supraregional paediatric bone marrow transplant unit for primary immunodeficiencies at Newcastle General Hospital. methods: Retrospective case note review of infants referred with a diagnosis of SCID from 1992 to 1998. RESULTS: Ten of 50 infants had PCP at presentation; only one was diagnosed before transfer. Eight were diagnosed by bronchoalveolar lavage and two by lung biopsy. In only one was P carinii identified in nasopharyngeal secretions. Five required ventilation for respiratory failure but all were successfully treated with co-trimoxazole and methylprednisolone with or without nebulised budesonide. Nine survived to bone marrow transplantation and four are long term survivors after bone marrow transplantation; no deaths were related to PCP. CONCLUSIONS: PCP is a common presenting feature of SCID but is rarely recognised. bronchoalveolar lavage or lung biopsy are needed for diagnosis. Treatment with co-trimoxazole is highly successful.
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3/76. Dental manifestations in severe combined immunodeficiency following bone marrow transplantation.

    severe combined immunodeficiency (SCID) is a rare primary immunodeficiency disorder with an estimated overall frequency of 1 in 75 000 live births. bone marrow transplantation is the only curative treatment available. Using T cell-depleted HLA non-identical bone marrow requires preconditioning with a short course of cytotoxic chemotherapy. We report severe dental developmental anomalies in three such patients under long-term follow up.
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4/76. Disseminated BCG infection following bone marrow transplantation for X-linked severe combined immunodeficiency.

    An 8-month-old boy with X-linked severe combined immunodeficiency (XSCID) developed disseminated bacille Calmette-Guerin (BCG) infection following BCG vaccination at birth. He initially presented with an abscess at the site of BCG vaccination and was begun on three-drug antituberculous treatment (rifampicin, isoniazid, and pyrazinimide). Dissemination was subclinical prior to a human leukocyte antigen (HLA)-identical bone marrow transplant (BMT) from his sister, following which he presented with an acute erythroderma. A skin biopsy specimen revealed granulomas with epithelial histiocytes and giant cells in the reticular dermis, and numerous acid-fast bacilli (AFB) were present on Ziehl-Nielsen stain. A diagnosis of disseminated BCG disease was made. Despite the addition of a fourth antituberculous agent, ethambutol, he did not recover and developed numerous skin abscesses over the following weeks. Examination of pus from these lesions demonstrated numerous AFB. clarithromycin was added as a fifth antituberculous agent. Despite five-drug antituberculous therapy and monthly intravenous immunoglobulin infusions, recurrent abscesses containing AFB developed intermittently until 7 months posttransplant. At follow-up 1 year post-BMT he showed good general physical improvement. All abscesses had healed with scarring, and no further skin lesions had occurred.
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5/76. severe combined immunodeficiency in a Malaysian child.

    A 3-month-old Malay male infant presented with multiple infections (candidiasis, pseudomonas aeruginosa, cytomegalovirus), persistent pneumonia, intractable diarrhoea and failure to thrive. There was lymphopaenia affecting both T and B subsets. He developed Graft versus Host disease weeks following transfusion with non irradiated blood. In spite of aggressive microbicidal and supportive therapy including regular immunoglobulin infusions, the child succumbed to infection before a bone marrow transplant could be instituted.
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6/76. Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency.

    bone marrow transplantation (BMT) for severe combined immunodeficiency (SCID) with human leukocyte antigen (HLA)-identical sibling donors but no pretransplantation cytoreduction results in T-lymphocyte engraftment and correction of immune dysfunction but not in full hematopoietic engraftment. A case of a 17-month-old girl with adenosine deaminase (ADA) deficiency SCID in whom full hematopoietic engraftment developed after BMT from her HLA-identical sister is reported. No myeloablative or immunosuppressive therapy or graft-versus-host disease (GVHD) prophylaxis was given. Mild acute and chronic GVHD developed, her B- and T-cell functions became reconstituted, and she is well almost 11 years after BMT. After BMT, repeated studies demonstrated: (1) Loss of a recipient-specific chromosomal marker in peripheral blood leukocytes (PBLs) and bone marrow, (2) conversion of recipient red blood cell antigens to donor type, (3) conversion of recipient T-cell, B-cell, and granulocyte lineages to donor origin by dna analysis, and (4) increased ADA activity and metabolic correction in red blood cells and PBLs.
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7/76. Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.

    Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of the winged-helix-nude (WHN) gene, which is expressed in the thymus but not in the hematopoietic lineage. The disease is characterized by a T-cell defect, congenital alopecia, and nail dystrophy. A Nude/SCID patient who underwent bone marrow transplantation from the human leukocyte antigen-identical heterozygote brother was studied to investigate, in this unique model, the role of the thymus in immunologic reconstitution. Despite an increase in CD3( ), CD4( ), and CD8( ) cells, CD4( ) CD45 RA naive lymphocytes were not regenerated. Conversely, naive CD8( ) cells were normal. After an initial recovery, lymphocyte proliferation to mitogens progressively declined compared with controls and genotypically identical donor cells grown in the WHN( /-) environment. Analysis of the T-cell receptor (TCR) repertoire of CD4( ) cells revealed that only 3 of 18 Vbeta families had an altered CDR3 heterogeneity length profile. Conversely, CD8( ) lymphocytes showed an abnormal distribution in most Vbeta families. These data indicate that the thymus is differentially required in the reconstitution of CD4( ) and CD8( ) naive subsets and in the maintenance of their TCR repertoire complexity. Taken together, these findings suggest that bone marrow transplantation is ineffective in the long-term cure of this form of SCID.
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8/76. Treatment of post-transplant lymphoproliferative disease with induction chemotherapy followed by haploidentical peripheral blood stem cell transplantation and Rituximab.

    Management of monoclonal lymphoproliferative disease following stem cell transplantation is difficult and previous attempts to eradicate tumor using chemotherapy or radiation therapy alone have not been successful. We report successful early eradication of an EBV negative, B cell non-Hodgkin's lymphoma in a child who received a T cell-depleted, maternal haploidentical bone marrow transplant for severe combined immunodeficiency disease. Our treatment strategy involved combining conventional induction chemotherapy with re-transplantation using the paternal donor as a source of peripheral blood stem cells, followed by treatment with anti-CD 20 monoclonal antibody (Rituximab). This strategy exploits the potential graft-versus-tumor activity of the mature T cells in the graft, while providing a source of stem cells to confer long-term immune function. The administration of Rituximab in the early post-transplant course may provide additional anti-tumor activity without affecting the new stem cell compartment.
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9/76. Bare lymphocyte syndrome: imaging findings in an adult.

    Bare lymphocyte syndrome (BLS) is a rare primary immune disorder characterized by defective expression of human leukocyte antigen (HLA) on lymphocytes, often resulting in extensive and recurrent multi-organ infections. We describe a previously undiagnosed case of an adult woman who presented with radiological findings of severe bronchiectases, near-total granulomatous destruction of facial bones, and osteomyelitis. diagnosis of BLS should be considered when evaluating children with unexplained bronchiectases or adults with long history of chronic multi-organ infections.
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10/76. Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations.

    The B-cell lineage in a patient with B-cell-negative severe combined immunodeficiency (SCID) was analysed by using antisurrogate light chain (SL) MoAbs. Peripheral CD3( ) T cells and CD19( ) B cells were absent in the patient. The common gamma (gamma c) chain was expressed normally on the patient's peripheral NK cells and his peripheral mononuclear cells did not possess any mutations in recombinase activating gene (RAG)-1, 2. Normal levels of expression of Ku70 and Ku80 protein were found by Western blot analysis. The patient did, however, display an increase in fibroblast sensitivity to irradiation. Furthermore, flow cytometric analyses of bone marrow cells showed that surface IgM and cytoplasmic mu positive cells were absent and that CD19( ) B cells were composed of only CD34( ) terminal deoxynucleotidyl transferase (TdT)( ) SL( ) pro-B cells. The complete arrest of pro- to pre-B cell development in the SCID patient's bone marrow suggests that some genes involved in V(D)J recombination, excepting the RAG gene, may play a causative role in the immunodeficiency.
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