RESUMO
Two children with Ki-1 antigen-positive, non-Hodgkin's lymphoma received high-dose chemotherapy, fractionated total body irradiation (TBI), and allogeneic bone marrow transplantation. Both patients had relapsed multiple times on conventional chemotherapy and radiation therapy. Following transplantation, there was successful engraftment with disappearance of clinical signs and symptoms of their disease. As of June 1, 1989 they are in continuous unmaintained complete remission, 56 and 40 months, respectively, after bone marrow transplantation.
Assuntos
Transplante de Medula Óssea , Linfoma não Hodgkin/cirurgia , Adolescente , Antígenos de Diferenciação/análise , Antígenos de Neoplasias/análise , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Terapia Combinada , Humanos , Antígeno Ki-1 , Linfoma não Hodgkin/imunologia , Masculino , Indução de RemissãoRESUMO
A 6-year-old girl suffering from severe psoriasis had been treated unsuccessfully by various conventional methods. She developed measles and, on recovery from measles, the psoriasis soon cleared up and now, 6 months later, she still has had no further recurrence. The basic defect in psoriasis, basal cell hyperplasia and defective keratinization, may well be immunologically mediated. Measles virus, by its immunosuppressive effect can lead to remission of psoriasis.
Assuntos
Sarampo/imunologia , Psoríase/imunologia , Criança , Feminino , Humanos , Sarampo/complicações , Psoríase/complicações , Remissão EspontâneaRESUMO
We have identified a previously unrecognized missense mutation in a patient with severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). The mutation is a G646-to-A transition at a CG dinucleotide and predicts a glycine-to-arginine substitution at codon 216. Computer analysis of secondary structure predicts a major alteration with loss of a beta-pleated sheet in a highly conserved region of the protein. The basepair substitution also generates a new site for the restriction enzyme BstXI in exon 7 of the genomic DNA. Digestion of genomic DNA from the patient and from his parents revealed that he was homozygous for the mutation and that his mother and father were carriers. This mutation in homozygous form appears to be associated with very severe disease, since the patient had perinatal onset of clinical manifestations of SCID, the highest concentration of the toxic metabolite deoxyATP in nine patients studied, and a relatively poor immunologic response during the initial 2 years of therapy with polyethylene glycol-adenosine deaminase. Analysis of DNA from 21 additional patients with ADA-SCID and from 19 unrelated normals revealed that, while none of the normal individuals showed the abnormal restriction fragment, two of the 21 patients studied were heterozygous for the G646-to-A mutation.
Assuntos
Adenosina Desaminase/deficiência , Síndromes de Imunodeficiência/genética , Mutação/genética , Adenosina Desaminase/química , Adenosina Desaminase/genética , Composição de Bases/genética , Linhagem Celular Transformada , Deleção Cromossômica , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Fosfatos de Dinucleosídeos/genética , Eritrócitos/metabolismo , Éxons/genética , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Masculino , Polimorfismo de Fragmento de Restrição , Conformação ProteicaRESUMO
Adenosine deaminase (ADA) deficiency may manifest as severe combined immunodeficiency (SCID) in early infancy. Some of these children develop radiologic changes which may be in part related to effects of this enzyme deficiency on the bony epiphysis. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEG-ADA, ADAGEN: Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.