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1.
Scand J Immunol ; 98(1): e13276, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37114940

RESUMEN

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, haematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients. There is a paucity of data from India on the clinical diversity and molecular spectrum of DOCK8 deficiency. In the present study, we report the clinical, immunological and molecular findings of 17 DOCK8-deficient patients from India diagnosed over the last 5 years.


Asunto(s)
Síndrome de Job , Humanos , India , Factores de Intercambio de Guanina Nucleótido/genética
3.
Indian Pediatr ; 58(4): 358-362, 2021 04 15.
Artículo en Inglés | MEDLINE | ID: mdl-33452767

RESUMEN

OBJECTIVE: To study clinical characteristics and outcome of children with admitted to a paediatric hospital in Mumbai, India. METHODS: Review of medical records of 969 children admitted between 19 March and 7 August, 2020, to assess the clinico-demographic characteristics, disease severity and factors predicting outcome in COVID-19 children. Variables were compared between children who were previously healthy (Group I) and those with co-morbidity (Group II). RESULTS: 123 (71 boys) children with median (IQR) age of 3 (0.7- 6) years were admitted, of which 47 (38%) had co-morbidities. 39 (32 %) children required intensive care and 14 (11.4%) died. Male sex, respiratory manifestation, oxygen saturation <94%; at admission, mechanical ventilation, inotrope, hospital stay of <10 days were independent predictors of mortality. Oxygen saturation <94% at admission (OR 35.9, 95% CI 1.5-856) and hospital stay <10 days (OR 9.1, 95% CI 1.04-99.1) were significant. CONCLUSION: COVID-19 in children with co-morbidities causes severe disease. Association of mortality with oxygen saturation by pulse oximeter <94% on admission, and hospital stay <10 days, needs further evaluation.


Asunto(s)
COVID-19 , Cardiotónicos/uso terapéutico , Hospitalización/estadística & datos numéricos , Hipoxia , Unidades de Cuidado Intensivo Pediátrico/estadística & datos numéricos , Respiración Artificial , COVID-19/diagnóstico , COVID-19/epidemiología , COVID-19/terapia , Preescolar , Comorbilidad , Femenino , Humanos , Hipoxia/diagnóstico , Hipoxia/etiología , India/epidemiología , Masculino , Mortalidad , Evaluación de Procesos y Resultados en Atención de Salud , Pronóstico , Respiración Artificial/métodos , Respiración Artificial/estadística & datos numéricos , SARS-CoV-2/aislamiento & purificación , Índice de Severidad de la Enfermedad
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