ABSTRACT
INTRODUCTION: For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving. OBJECTIVE: To review our experience of 11 years transplanting children with PID in Mexico. METHODS: Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes. All patients received post-transplant cyclophosphamide as graft-versus-host-disease (GVHD) prophylaxis. RESULTS: 19 patients with combined, phagocytic or syndromic PID from 5 states. Twelve of them were male (58%) and 14 survive (79%). Mean age at HSCT was 41.9 months; mean time from diagnosis was 31.2 months. Seven grafts were umbilical cord and 12 haploidentical. The conditioning regime was myeloablative, with five primary graft failures. Two patients had partial and 10 full chimerism. Five patients died within 2 months after transplant. Immune reconstitution was complete in 11 of 19 patients. We found a prevalence of 21% GVHD. DISCUSSION: We describe 19 patients from Mexico with 8 PID diagnoses who underwent allogenic HSCT over a period of 11 years. Survival rate and other outcomes compare well with industrialized countries. We recommend the use of post-transplant cyclophosphamide to prevent GVHD in scenarios of resource scarcity and a lack of HLA-identical donors.
Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Primary Immunodeficiency Diseases , Child , Cyclophosphamide/therapeutic use , Graft vs Host Disease/prevention & control , Humans , Male , Mexico , Primary Immunodeficiency Diseases/therapy , Retrospective Studies , Transplantation ConditioningABSTRACT
BACKGROUND: Undifferentiated embryonal sarcoma of the liver accounts for 9-13% of malignant tumors in the pediatric age group, and is the third primary malignant neoplasm of the liver in children. However, few cases are reported in the literature. It may manifest with fever, weight loss, pain, and abdominal tumor sensation. In addition to pathology and immunohistochemistry, imaging studies are the appropriate tools for diagnosis. CASE REPORT: We present the case of a 6-year-old female patient diagnosed with undifferentiated embryonal sarcoma of the liver by surgery and subsequent biopsy results. CONCLUSIONS: When reviewing the literature, we found that this type of malignant neoplasm is not frequent in children. However, it is important to consider this type of tumor as a cause in those cases of hepatomegaly in the pediatric age.
INTRODUCCIÓN: El sarcoma hepático embrionario indiferenciado representa el 9-13% de los tumores hepáticos malignos en la edad pediátrica y es la tercera neoplasia maligna primaria de hígado en la infancia. Sin embargo, son pocos los casos reportados en la literatura. Se puede manifestar con fiebre, pérdida de peso, dolor y sensación de tumor abdominal. Los estudios de imagen, además de los estudios anatomopatológico e inmunohistoquímico, son las herramientas adecuadas para el diagnóstico. CASO CLÍNICO: Se presenta el caso de una paciente de 6 años de edad con diagnóstico de sarcoma hepático embrionario indiferenciado mediante cirugía y posterior resultado de la biopsia. CONCLUSIONES: Al revisar la literatura se encontró que este tipo de neoplasia maligna no es frecuente en la infancia. Sin embargo, es importante considerar este tipo de tumor como causa en aquellos casos de hepatomegalia en la edad pediátrica.
Subject(s)
Liver Neoplasms , Sarcoma , Biopsy , Child , Female , Humans , Liver Neoplasms/diagnosis , Sarcoma/diagnosisABSTRACT
Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early. Patients with PD IFN-γR1 deficiency usually have good prognosis and might respond to human recombinant subcutaneous IFN-γ. Several monogenic congenital defects have been linked to HLH, a catastrophic "cytokine storm" that is usually ascribed to lymphocyte dysfunction and thought to be triggered by interferon gamma. This is the sixth patient with both MSMD and HLH of whom we are aware. The fact that patients with macrophages that cannot respond to IFN-γ still develop HLH, bring these assumptions into question.
ABSTRACT
Introducción. El parvovirus B19 ha sido identificado como el agente etiológico del eritema infeccioso o quinta enfermedad, de las crisis aplásicas transitorias en niños con enfermedades hemolíticas, y de la aplasia adquirida de la serie roja en pacientes inmunocomprometidos, incluyendo los pacientes que reciben un trasplante de un órgano sólido o de médula ósea. Caso clínico. Adolescente femenina de 15 años de edad con insuficiencia renal crónica terminal de causa desconocida, quien recibió trasplante renal de donador cadavérico. Dos meses después del trasplante presentó anemia grave arregenerativa que requirió transfusiones de sangre, sin responder a la suspensión del tratamiento con mofetil micofenolato. Aunque la investigación de anticuerpos IgM e IgG contra el parvovirus B19 fue negativa, se encontró positividad en la investigación del DNA viral por medio de la prueba de reacción en cadena de la polimerasa. El estudio de la médula ósea mostró el patrón característico de pronormoblastos con cambios megaloblásticos y vacuolas en el citoplasma y detención en la maduración a nivel de los normoblastos. El tratamiento con inmunoglobulina intravenosa por 10 días se acompañó de respuesta reticulocitaria adecuada y corrección de la anemia. Conclusiones. En los pacientes con trasplante renal y anemia grave arregenerativa debe investigarse la presencia de parvovirus B19, preferentemente a través de la prueba de reacción en cadena de la polimerasa. El tratamiento con inmunoglobulina intravenosa es el más adecuado para eliminar la infección y corregir el cuadro anémico.
Introduction. Parvovirus B19 can present in children as erythema infectious rash, aplastic anemia in patients with hemolytic diseases and pure red cell aplasia in immunocompromised patients, such as in bone marrow and solid organ transplant recipients. Case report. A 15-year-old female with end stage renal disease of unknown origin received a renal transplant from a cadaveric donor. Two months after the transplant, she presented severe arregenerative anemia despite mofetil micofenolate withdrawal and required blood transfusions. IgM and IgG titers for parvovirus B19 were negative, but DNA polymerase chain reaction was positive. Bone marrow showed the characteristic pattern of pronormoblasts with megaloblastic changes and cytoplasmic vaculations, with maturation arrest at normoblast level. The patient was treated with intravenous immunoglobulin for 10 days with adequate reticulocyte response and resolution of her anemia. Conclusions. Parvovirus B19 should be investigated in renal transplant patients with severe arregenerative anemia; DNA polymerase reaction test is the diagnostic test of choice. Treatment with intravenous immunoglobulin is the recommended therapy for the control and elimination of the infection and anemia resolution.
