RESUMO
Early death in Schimke immuno-osseous dysplasia often results from renal failure and/or cell-mediated immunodeficiency. Kidney transplants have improved renal function, but effective therapy for the immunodeficiency has not yet been reported. We describe markedly improved marrow function 2 years after bone marrow transplantation in a boy with Schimke immunoosseous dysplasia.
Assuntos
Transplante de Medula Óssea , Osteocondrodisplasias/genética , Osteocondrodisplasias/terapia , Antígenos CD/sangue , Criança , Pré-Escolar , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Imunossupressores/uso terapêutico , Recém-Nascido , Transplante de Rim , Linfopenia/complicações , Linfopenia/diagnóstico , Masculino , Osteocondrodisplasias/complicações , Linhagem , Insuficiência Renal/complicações , Insuficiência Renal/cirurgia , Tacrolimo/uso terapêuticoAssuntos
Agranulocitose/patologia , Quimiotaxia de Leucócito , Neutropenia/patologia , Neutrófilos/ultraestrutura , Adolescente , Medula Óssea/patologia , Núcleo Celular/ultraestrutura , Ensaio de Unidades Formadoras de Colônias , Granulócitos/imunologia , Humanos , Cariotipagem , Masculino , Monócitos/imunologia , Neutropenia/genética , Neutropenia/imunologia , PloidiasRESUMO
A 10-month-old child with a profound deficiency of adenosine deaminase and severe combined immunodeficiency was treated for a period of 17 months with red cell and plasma transfusions containing normal amounts of the deficient enzyme. Following each transfusion, the plasma adenosine, red cell and lymphocyte ATP, urinary adenine, and urinary deoxyadenosine decreased transiently. During this period, the absolute blood lymphocyte count rose and a limited increased in the response of the lymphocytes to PHA-P was observed. Delayed hypersensitivity skin tests remained negative during the transfusion periods. A quantitative elevation of serum immunoglobulins occurred, but specific antibody formation was not elicited. In contrast to a previous report of successful therapy of ADA deficiency with red cell and plasma infusions, this patient responded poorly to enzyme replacement therapy. The difference may be related to a more profound enzyme deficiency in our patient.
Assuntos
Adenosina Desaminase/deficiência , Transfusão de Sangue , Transfusão de Eritrócitos , Nucleosídeo Desaminases/deficiência , Adenina/metabolismo , Adenosina/sangue , Adenosina Desaminase/sangue , Pré-Escolar , Desoxiadenosinas/urina , Eritrócitos/enzimologia , Humanos , Síndromes de Imunodeficiência/complicações , Lactente , Linfócitos/enzimologia , MasculinoRESUMO
It was found that ATP and cyclic AMP were greatly increased in human blood lymphocytes which were deficient in ADA. Certain other purine and pyrimidine nucleotides were elevated but to a lesser degree. Energy production in these cells may be inhibited by the increase in nucleotides since the ATP:ADP ratio was significantly below normal. Thus it appears that the immunologic deficiency in human ADA deficiency is related to increased nucleotide concentrations in the lymphocytes.