RESUMEN
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.
Asunto(s)
Trasplante de Médula Ósea , Linfoma no Hodgkin/cirugía , Adolescente , Antígenos de Diferenciación/análisis , Antígenos de Neoplasias/análisis , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Terapia Combinada , Humanos , Antígeno Ki-1 , Linfoma no Hodgkin/inmunología , Masculino , Inducción de RemisiónRESUMEN
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.
Asunto(s)
Sarampión/inmunología , Psoriasis/inmunología , Niño , Femenino , Humanos , Sarampión/complicaciones , Psoriasis/complicaciones , Remisión EspontáneaRESUMEN
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.
Asunto(s)
Adenosina Desaminasa/deficiencia , Síndromes de Inmunodeficiencia/genética , Mutación/genética , Adenosina Desaminasa/química , Adenosina Desaminasa/genética , Composición de Base/genética , Línea Celular Transformada , Deleción Cromosómica , Desoxirribonucleasas de Localización Especificada Tipo II/metabolismo , Fosfatos de Dinucleósidos/genética , Eritrocitos/metabolismo , Exones/genética , Heterocigoto , Homocigoto , Humanos , Recién Nacido , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Conformación ProteicaRESUMEN
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.