RESUMO
MHC class II deficiency is a rare and fatal form of primary combined immunodeficiency caused by a lack of T-cell-dependent humoral and cellular immune response to foreign antigens, which can only be cured by allogenic stem cell transplantation. In the literature search, we identified 68 cases of HSCT in MHC class II deficiency in the last 14 yr. Pre- and post-transplant MHC class II deficiency is complicated by overwhelming viral infections, a high incidence of GvHD, and graft failure with a poor overall survival rate below 50%. We report an eight-month-old boy presenting with severe respiratory infections and chronic diarrhea, whose sister died at the age of four yr from septicemia. MHC II deficiency was caused by an RFXANK-mutation and treated successfully by 4/6 mismatched unrelated CBT after a myeloablative conditioning regimen based on anti-thymocyte globulin, busulfane, fludarabine, and cyclophosphamide. At present, our patient is well with full immune reconstitution 3(4/12) yr after CBT. CB may represent an alternative source of stem cells for children with MHC class II deficiency without a suitable donor.
Assuntos
Sangue Fetal/transplante , Transplante de Células-Tronco Hematopoéticas/métodos , Antígenos de Histocompatibilidade Classe II/imunologia , Síndromes de Imunodeficiência/cirurgia , Seguimentos , Sobrevivência de Enxerto , Antígenos de Histocompatibilidade Classe II/genética , Teste de Histocompatibilidade , Humanos , Síndromes de Imunodeficiência/diagnóstico , Lactente , Masculino , Medição de Risco , Índice de Gravidade de Doença , Condicionamento Pré-Transplante/métodos , Transplante Homólogo , Resultado do TratamentoRESUMO
Chronic granulomatous disease (CGD) is caused by malfunctioning of the phagocyte NADPH oxidase responsible for the generation of microbicidal reactive oxygen species. It is characterized by severe recurrent infections with catalase positive bacteria. Bacterial or fungal osteomyelitis is a common complication which often does not respond sufficiently to intravenous antibiotic treatment. We report the case of a four year old boy with CGD and osteomyelitis of the mandible refractory to intravenous antibiotic therapy. Introduction of hyperbaric oxygen therapy (HBO) was well tolerated and led to resolution of the osteomyelitis.
Assuntos
Doença Granulomatosa Crônica/terapia , Oxigenoterapia Hiperbárica , Doenças Mandibulares/terapia , Osteomielite/terapia , Antibacterianos/uso terapêutico , Pré-Escolar , Terapia Combinada , Quimioterapia Combinada , Doença Granulomatosa Crônica/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Mandíbula/patologia , Osteomielite/diagnóstico , RecidivaRESUMO
Caspofungin was used for the first time with trimethoprim/sulfamethoxazole (TMP/SMX) for treatment of high risk Pneumocystis jiroveci pneumonia (PCP) in a pediatric immunocompromised patient. Despite the need for mechanical ventilation, the pediatric patient with relapsed acute lymphoblastic leukemia improved within nine days of treatment and showed no major side effects. The apparent relative lack of toxicity and of pharmacokinetic drug interactions makes caspofungin an attractive agent.