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1/893. Persistent pneumatoceles associated with systemic leukocyte abnormalities.

    Three patients with leucocyte related immune deficiency developed pneumatoceles during acute bacterial pneumonia. A fourth patient with chronic granulomatous disease of childhood developed persistent lung cysts following pulmonary abscesses. The pneumatoceles persisted without significant change for one year to five years. In 25 immunologically normal patients, pneumatoceles that were associated with acute bacterial pneumonia resolved in 3 weeks to 11 months. Perhaps alterations in leukocytic function and in local inflammatory response result in fibrotic cellular reaction and sequestration of parenchymal air collections, precluding their resorption. ( info)

2/893. Epstein-Barr virus-associated leiomyosarcoma of the thyroid in a child with congenital immunodeficiency: a case report.

    We report an unusual case of multifocal leiomyosarcoma involving the thyroid gland, liver, and right lung in a child with congenital immunodeficiency disease. The smooth muscle nature of these neoplasms was confirmed by immunohistochemistry and electron microscopic studies. in situ hybridization showed large amounts of Epstein-Barr virus messenger rna within the tumor cells. Although Epstein-Barr virus-associated smooth muscle tumors have been reported in children with AIDS and after organ transplantation, we are unaware of any case report in congenital immunodeficiency disease. ( info)

3/893. Selective antipolysaccharide antibody deficiency associated with peripheral blood CD5 B-cell predominance.

    BACKGROUND: Primary humoral deficiencies vary from complete absence of B cells and/or serum immunoglobulin to lacunar deficits involving specific antibody responses to polysaccharides. OBJECTIVES: We compared the B-cell CD5 expression in patients with selective antipolysaccharide antibody deficiencies (SPADs), common variable immunodeficiency (CVID), and IgG subclass deficiency and in normal control subjects. methods: Five patient populations were evaluated: (1) patients with severe SPAD (no protective serologic postvaccine response to any of 12 polysaccharide antigens tested); (2) patients with intermediate SPAD (diminished response to polysaccharide antigens and adequate response to 1 to 3 of 12 serotypes tested); (3) patients with IgG subclass deficiency; (4) patients with CVID; and (5) age-matched control subjects. blood was collected from all patients and evaluated by using flow cytometry. Results were compared by using the Student t test. RESULTS: patients with severe SPAD deficiencies had a marked predominance of CD5 B cells in the peripheral blood (93% to 97% of total B cells, n = 2). The intermediate SPAD group had a mean CD5 B-cell percentage that was significantly higher than that of the age-matched control group (87. 4%, n = 7, vs 52.5%, n = 20; P =.007). patients with CVID and IgG subclass deficiency had mean CD5 B-cell percentages that were similar to those of the age-matched control subjects. CONCLUSIONS: Our studies demonstrate that patients with SPAD had a markedly increased percentage of CD5 B cells in the peripheral blood as compared with age-matched control subjects and patients with other humoral deficiencies. This observation suggests that an association may be present between CD5 B-cell predominance and SPAD. ( info)

4/893. Persistent Sweet's syndrome occurring in a child with a primary immunodeficiency.

    Sweet's syndrome (SS) occurs most commonly in association with inflammatory or neoplastic disorders. Only rarely has it been associated with immunodeficiency disorders. We describe a child with a T-cell immunodeficiency who had a persistent neutrophilic dermatosis that was histologically and clinically consistent with SS. SS associated with immunodeficiencies may occur as a reaction to an underlying infection or a defect in immunoregulation. Such patients, however, may not be able to produce the classic fever and neutrophilia associated with SS. They may fail to respond to standard treatment for SS and may suffer a prolonged and persistent course. ( info)

5/893. Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts.

    Severe immunodeficiency characterized by lymphopenia was found in two siblings, one of whom was examined in detail. The calcium flux, pattern of tyrosine phosphorylation of proteins, and interleukin 2 (IL-2) production and proliferation in response to mitogens suggested that the peripheral blood T cells activated normally. The peripheral blood T cells were shown to have an activated phenotype with increased expression of CD45RO and CD95/Fas. Increased spontaneous apoptosis occurred in unstimulated lymphocyte cultures. The elevated apoptosis was not due to alterations in expression or to mutations in Bcl-2, Bcl-X(L), or Flip, nor could the spontaneous apoptosis be prevented by blocking Fas, suggesting that it was independent of Fas signaling. This is the first inherited combined immunodeficiency associated with impaired lymphocyte survival. fibroblasts derived from the patient showed appreciable radiosensitivity in clonal assays, but apoptosis was not elevated. Our results show that the fibroblasts represent a new radiosensitive phenotype not associated with cell cycle checkpoint defects, V(D)J recombination defects, or elevated chromosome breakage. We suggest that the affected gene plays a role in an undetermined damage response mechanism that results in elevated spontaneous apoptosis in lymphoid cells and radiosensitivity in fibroblasts. ( info)

6/893. Successful related umbilical cord blood transplantation for graft failure following T cell-depleted non-identical bone marrow transplantation in a child with major histocompatibility complex class II deficiency.

    major histocompatibility complex (MHC) class II deficiency is a rare form of primary combined immunodeficiency that can only be corrected by stem cell transplantation. We report a 4(1/2)-year-old girl with MHC class II deficiency who underwent a related CBT due to graft failure following T cell-depleted non-identical BMT. The patient is alive and well 2 years after the second transplant. A sustained hematopoietic engraftment and a progressive immune recovery have been detected. We conclude that cord blood may be an effective source of hematopoietic stem cells for patients with immuno- deficiency disorders including diseases with a high rate of graft failure. ( info)

7/893. Radiologic changes in infancy in McKusick cartilage hair hypoplasia.

    cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtle in young children, and radiographic changes may be elusive. We present four children below age 2 in whom the clinical diagnosis of CHH was confirmed radiographically. We emphasize radiologically and clinically discernable anterior angulation of the entire sternum, a sign not previously described in this dysplasia. ( info)

8/893. Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement.

    Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. Allogeneic BMT in the early period is an important modality of treatment for GD. We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 108/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus. Long-term follow-up will determine the prognosis regarding the neurological findings. ( info)

9/893. Viral infections in interferon-gamma receptor deficiency.

    interferon-gamma receptor deficiency is a recently described immunodeficiency that is associated with onset of severe mycobacterial infections in childhood. We describe the occurrence of symptomatic and often severe viral infections in 4 patients with interferon-gamma receptor deficiency and mycobacterial disease. The viral pathogens included herpes viruses, parainfluenza virus type 3, and respiratory syncytial virus. We conclude that patients with interferon-gamma receptor deficiency and mycobacterial disease have increased susceptibility to some viral pathogens. ( info)

10/893. Leukaemia in children and their grandparents: studies of immune function in six families.

    Seven of 500 children with acute leukaemia seen over a 15-year period were known to have a close relative with leukaemia or lymphoma. In each case the affected relative was a grandparent of the child, six of the seven being paternal grandparents. Investigation of thses six families showed that the fathers, who had two affected first-degree relatives, had lower lymphocyte counts and higher serum IgA concentrations than paired controls. Atopy, repeated infections and rheumatic disease were common amongst the parents and their sibs. The findings suggest a possible immunodeficiency basis for leukaemia in these families and perhaps also for acute lymphoblastic leukaemia of childhood in general. In the only family in which three generations, including both leukaemic patients, were available for HL-A typing, the affected grandson had not inherited either of his affected grandmother's haplotypes. ( info)
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