Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over a 29-year period, 43 cases of histiocytosis X presented in children under the age of 12 years. 29 patients (67%) have survived, and of these, 15 (52%) have a detectable disability. It was confirmed that young age at presentation and evidence of soft tissue involvement were associated with a worse prognosis. The majority of deaths were associated with pulmonary involvement. 14 patients developed diabetes insipidus. 5 of the surviving adults have heights below the 3rd centile. Puberty usually occurred at a normal age. Follow-up studies on 12 survivors showed no evidence of residual abnormality of haematology, deficient lymphocyte function, or yeast opsonization. HLA typing showed no unusual pattern. Mild carbon monoxide diffusion deffects were present in 4 patients and other abnormalities were detected on lung function tests.
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PMID:Histiocytosis X; follow-up of 43 cases. 30 29

The clinical, histologic, and immunohistologic features of three cases of pre-T-cell (CD7+/CD2-) lymphoblastic lymphoma in adults are reported. The patients were adults over age 50 years who had a relatively indolent nodal disease, partial involvement of lymph nodes, and primitive immunophenotype. The phenotype of the three cases was TdT+, HLA-DR+, CD34+, CD71+, CD38+, and CD7+, most resembling the normal prothymocyte, and in contrast to normal thymocytes, which generally coexpress CD1+, CD4+, and CD8+. The prethymic T-cell character was further supported by germline T-cell receptor beta and gamma chain genes. In contrast to most reported cases with this early immunophenotype, these patients had nodal disease but not peripheral blood involvement. Two of the three cases were associated with Langerhans' cell histiocytosis (histiocytosis X), a previously unreported association. Because of the Langerhans' cell histiocytosis and the relatively indolent clinical presentation, the differential diagnosis in all cases included both a benign process and a lower-grade lymphoma. Recognition of this unusual form of adult lymphoblastic lymphoma is essential for correct diagnosis and treatment.
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PMID:Prethymic adult lymphoblastic lymphoma. A clinicopathologic and immunohistochemical analysis. 147 28

The morphological, ultrastructural and immunophenotypic properties of Histiocytosis-X (H-X) cells were investigated in a lymph node involved by Letterer-Siwe (L-S) disease. H-X cells were T6+ (CD1a), S-100+, T4+ (CD4) and HLA-DR+; in addition they were consistently T11+ (CD2) and were stained by antibodies directed against receptors for transferrin (T9), C3bi (OKM-1/CD11b), IgG-Fc (Leu-11/CD16) and Interleukin-2 (IL-2R/CD25). On immunostained cytosmears, T6+ cells were highly polymorphic and a prominent fraction (45%) showed immature morphology, characterized by lymphoid appearance. Cells expressing macrophage markers (ANAE, AACT, Leu-M3/CD14, PAM-1) were 10-fold fewer than T6+ cells and did not show a lymphoid morphology. At TEM level, H-X cells were characterized by poor content of LC granules and by the presence of myelin-like laminated bodies and of lysosome-like dense bodies. The immunophenotypic properties of H-X cells were compared to those of epidermal Langerhans cells (LCs) and of LCs present in lymph nodes of three cases of dermatophatic lymphadenitis. Epidermal LCs were T6+/HLA-DR+, and sometimes faintly T4+. Lymph node LCs were T6+, S-100+, T4+, HLA-DR+, and showed the same variety of surface receptors detected in H-X cells; furthermore, in a case with massive infiltration of the paracortex by T6+ cells, lymph node LCs were faintly T11+ and some of the T6+ cells had lymphoid aspect. Our findings suggest that the H-X cell population of L-S disease is not homogeneous, but is composed of discrete cell subsets with distinctive antigenic and morphological traits closely resembling those of cells of LC lineage at different maturational stages.
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PMID:Letterer-Siwe disease: immunohistochemical evidence for a proliferative disorder involving immature cells of Langerhans lineage. 313 61

Congenital self-healing histiocytosis (CSHH) is a rare primary histiocytic skin disorder. Only a few cases have been studied by ultrastructure and immunohistochemistry. Here we report a new case that was investigated using an electron microscope and a panel of monoclonal (MCA) and polyclonal (PCA) antibodies. CSHH cells were found to bear the immunohistochemical phenotype of normal epidermal Langerhans cells (LC) and histiocytosis X (HX) cells (CD1a/c+, CD1b-, CD4+/-, human leukocyte antigen [HLA]-DR/DQ+, S-100+). However, an electron microscope showed a paucity of Birbeck granule (BG)-containing cells. This contrasted with their immunophenotype. This finding, along with other ultrastructural characteristics of CSHH cells, suggests that histologic differences exist between CSHH and HX. However, because no absolute histologic criterion is known that allows unequivocally the differential diagnosis between the two diseases, this distinction currently has to rely on clinical criteria, mainly the regressive course observed within a few months in CSHH. The precise nosologic position of CSHH among other histiocytic syndromes remains unsettled.
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PMID:Congenital self-healing histiocytosis (Hashimoto-Pritzker). An ultrastructural and immunohistochemical study. 327 80

We treated a family with three children with histiocytosis X (H-X). The chemotactic response of the neutrophils in these three patients was depressed and the chemotactic response of the neutrophils of the mother was also depressed compared to that of normal age-matched controls. To elucidate the genetic factors, we examined HLA antigens in five members of this family. All five members had Aw24, B7, Cw7, and DR1. Immunological and genetic studies in an additional 32 patients with H-X were performed. The chemotactic response of 35 patients with H-X (154.9 +/- 58.4/HPF) was significantly depressed in comparison with that of 35 age-matched healthy controls (613.3 +/- 116.7/HPF). In addition, the value of chemiluminescence of 20 of 35 patients (20.5 +/- 6.6 mV) was also significantly depressed in comparison with that of 20 normal controls (45.3 +/- 11.4 mV). The frequencies of Bw61 (54.4%) and Cw7 (45.4%) in 33 patients with H-X were significantly increased in comparison with those of 250 normal healthy controls (20.4 and 18.0%, respectively). Studies of immunoglobulin levels and complement titers of patients with H-X showed no consistent abnormalities. We proposed that defects of polymorphonuclear function may lead to an increased susceptibility to bacterial infections in patients with this disorder.
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PMID:Immunological studies on histiocytosis X. I. Special reference to the chemotactic defect and the HLA antigen. 349 Apr 86

Surface markers expressed on histiocytosis X (HX) cells were studied using 18 monoclonal antibodies (McAbs) and an in situ indirect immunoperoxidase technique. Specimens of skin (five biopsies from three cases) and lymph node (one case) were studied. Our study confirmed previous findings of an OKT6+ HLA DR+ Leu 3a+ phenotype of HX cells in skin and indicated that lymph node HX cells can also have this phenotype. A mixture of cells expressing T markers/T subset, monocyte/macrophage, and killer/natural killer (K/NK) markers was also present in two cases. However, one case with an aggressive course showed no detectable HNK 1+ (K/NK) or Leu 2A (suppressor) cells in the cutaneous infiltrates and no detectable HNK 1+ lymphocytes in an affected lymph node. The significance of these findings in relation to prognosis and therapy is discussed.
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PMID:Analysis of histiocytosis X infiltrates with monoclonal antibodies directed against cells of histiocytic, lymphoid, and myeloid lineage. 351 Jul 87

The antigenic properties of normal epidermal Langerhans cells and their neoplastic counterparts (histiocytosis X cells) were compared with those of other types of macrophages, by immunohistochemical staining of skin and lymph node biopsies with a panel of mono-clonal antibodies. The phenotype of Langerhans cells, histiocytosis X cells, dermal macrophages and interdigitating reticulum cells were similar (HLA-DR+, OKT 6+/-, Leu3+/-, C3-receptor-, Ig-complex-, R4/23-, MO2-), and differed markedly from those of follicular dendritic cells (HLA-DR-, OKT6-, Leu3-, C3 receptor+, Ig+, R4/23+, MO2-, and histiocytic reticulum cells (HLA-DR+/-, OKT6-, Leu3+/-, C3-receptor+, Ig-complex+, R4/23-, MO2+/-). This indicates that Langerhans cells are related to the interdigitating reticulum cells found in the T cell areas of lymphoid organs, and demonstrates that Langerhans cells do not express C3b, C3bi or C3d receptor molecules. Our data also emphasise that the Leu3 antigen is not restricted to cells of the T cell lineage.
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PMID:Normal and neoplastic Langerhans cells: phenotypic comparison with other types of macrophages. 387 94

Although several attempts at the immunohistochemical characterization of histiocytosis have recently been made there is only one paper which reports a case of cerebral Langerhans cell histiocytosis (LCH) diagnosed by biopsy. This paper presents a bioptically diagnosed case of juvenile histiocytosis. The panel of antibodies used was as follows: anti-S-100, 2 different antibodies to anti-interleukin 2, anti-lysozyme, anti-LEU M1, anti-MAC 387, anti-major histocompatibility complex II and anti-GFAP. Microglia markers--Griffonia simplicifolia and RCA 1 lectins were also utilized. The proliferating cells produced a positive response to S-100, lysozyme and a partially positive response to HLA DR, but responded negatively to MAC 387, LEU M1, lectins, IL2R and GFAP. Our results were compared and analyzed in the light of those obtained by other authors.
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PMID:Immunohistological study of a case of cerebral Langerhans cell histiocytosis in brain biopsy. 772 76

We have examined the clinicopathological correlates of 74 patients with histologically confirmed Langerhans cell histiocytosis. Factors that influenced disease outcome included, three or more organ/systems being involved, a disease onset before the age of 2 years, the involvement of certain vital organs/systems such as liver/spleen, bone marrow and lungs, and male gender. The total number of involved organs/systems was the single most important determinant of disease outcome. Mortality rate in patients with three or more organs/systems involved, was 26%, as compared with 0% in the group with one or two organs/systems involved (chi 2 = 11.2, P = 0.008). There were no familial cases in our series, but we looked for a possible immunogenetic association by tissue typing 46 Caucasian sufferers and comparing the results with 117 controls. We used normal peripheral blood lymphocytes in 39 cases, Epstein-Barr virus-transformed lymphoblastoid cell lines in 12 cases, and both peripheral blood and Epstein-Barr virus-transformed lymphocytes in five cases. The HLA-B7 antigen was significantly increased Langerhans cell histiocytosis patients (19 of 46 = 41.3%) compared with 19 of 117 (16.2%) in the control group chi 2 = 11.2, relative risk = 3.6, P value after correction = 0.013). Attempt to stratify the disease into single-system or multisystem disease did not result in any significant association.
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PMID:Langerhans cell histiocytosis--clinicopathological reappraisal and human leucocyte antigen association. 877 56

Langerhans' cell histiocytosis (LCH) is an uncommon disorder of childhood, formerly referred to histiocytosis X. A significant proportion of children with disseminated disease may undergo progression to a fatal outcome despite chemotherapy with single or multiple agents. Only six cases of LCH treated with BMT have been reported in the literature, including two cases of autologous BMT. Of them, only one was less than 14 years of age. We describe a 4-year-old child whose disseminated, refractory Langerhans' cell histiocytosis was not controlled by front-line monotherapy with etoposide, nor by rescue treatment with combined chemotherapy (vinblastine and etoposide) and immunotherapy (steroids and cyclosporine). Due to the high risk of fatal progressive disease, he underwent bone marrow transplantation from his HLA-identical sister who was heterozigous for beta-thalassemia. On day 24 after transplantation marrow reconstitution was evident, with WBC count 2.3 x 10(9)/L, neutrophil count > 0.5 x 10(9)/L, and platelet count 72 x 10(9)/L. Engraftment was demonstrated by PCR DNA analysis. The patient was discharged on day 25. After transplantation he experienced fever for 11 days and developed signs of grade I cutaneous and intestinal graft-versus-host disease, that was treated with methylprednisolone from days 11 to day 68 (1 mg/kg/day for 18 days, then tapered). He became transfusion independent on day 24; the hemoglobin value was 7.5 g/dL on day 54 and has remained > 10 g/dL since day 200. Features of heterozygous beta-thalassemia have been evident since then. Bone marrow aspirate was normal on days 25 and 94. At the time of this writing he remains in excellent condition, disease and treatment free, 25 months after transplantation. Although limited, current experience suggests that bone marrow transplantation has the potential to cure refractory Langerhans' cell histiocytosis.
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PMID:Bone marrow transplantation for refractory Langerhans' cell histiocytosis. 895 63


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