RESUMEN
BACKGROUND: Atypical mycobacteria can cause systemic infections in patients with certain types of immunodeficiency. METHODS: Clinical samples were decontaminated and cultured to assess the presence of mycobacterial species. Gene sequencing was performed to reveal interferon-gamma receptor 1 (IFN-gamma R1) deficiency. RESULTS: The index patient received a diagnosis of dominant IFN-gamma R1 deficiency during treatment for a serious infection due to atypical mycobacteria. She belongs to a Norwegian multiplex family comprising 3 generations and 5 patients with dominant IFN-gamma R1 deficiency. Four of these patients have been treated with tuberculostatics because of extensive infection due to atypical mycobacteria, such as Mycobacterium avium-intracellulare, Mycobacterium scrofulaceum, Mycobacterium bovis (bacille Calmette-Guérin), Mycobacterium bohemicum, and Mycobacterium gordonae. Two of the patients have also received subcutaneous injections of IFN-gamma. One family member with the deficiency has not received treatment and is still healthy at 13 years of age. CONCLUSIONS: Serious infection due to atypical mycobacteria should initiate a search for primary immunodeficiencies, particularly IFN-gamma R1 deficiency. Treatment with IFN-gamma should be started when serious infection due to atypical mycobacteria is verified and dominant partial IFN-gamma R1 deficiency is suspected.
Asunto(s)
Infecciones por Mycobacterium no Tuberculosas/genética , Micobacterias no Tuberculosas/aislamiento & purificación , Receptores de Interferón/deficiencia , Adolescente , Niño , Femenino , Genes Dominantes , Predisposición Genética a la Enfermedad , Humanos , Masculino , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Infecciones por Mycobacterium no Tuberculosas/inmunología , Infecciones por Mycobacterium no Tuberculosas/microbiología , Noruega , Linaje , Reacción en Cadena de la Polimerasa/métodos , ARN Ribosómico 16S/genética , Receptores de Interferón/genética , Receptores de Interferón/inmunología , Receptor de Interferón gammaRESUMEN
BACKGROUND: This study present a review of erythrocyte transfusions in a neonatal intensive care unit in a Norwegian county hospital. MATERIAL AND METHODS: Prospective registration 1991-2002. A leucokyte-depleted erythrocyte solution, haematocrit 60%, was used. RESULTS: 28 infants in circulatory collapse received 30 transfusions because of asphyxia (15), twin-twin transfusion (5), septicaemia (3), umbilical cord rupture (3) or other causes (4). Haemoglobin increased 1.8 +/- 1.4 g/dl per 10 ml/kg transfused, compared to 2.6 +/- 1.2 g/dl in 183 transfusions for anaemia in 122 infants (p < 0.05). All transfusions (n = 115) after the first week of life were given because of anaemia, 107 in preterm (< 37 weeks) infants, and at higher haemoglobin levels in preterm infants with anaemia symptoms than in those without (9.7 +/- 1.5 vs. 8.5 +/- .2 g/dl, p < 0.05). INTERPRETATION: The rise in haemoglobin was higher for transfusions for anaemia than for circulatory collapse, probably because of dilution from other fluids given and mobilisation of extravascular fluid in the last group. A substantial percentage of the transfusions were given on indications deviating from the guidelines.