RESUMO
Omenn syndrome is a rare combined immunodeficiency mostly associated with RAG1 and RAG2 mutations; the clinical manifestations are well-described and include neonatal erythroderma. Mortality due to opportunistic infections is a serious risk, and a timely diagnosis with a skin biopsy is an important part of the diagnostic workup. We wish to highlight key clinical features of Omenn syndrome and discuss the relevance of a skin biopsy.
Assuntos
Dermatite Esfoliativa , Imunodeficiência Combinada Severa , Proteínas de Homeodomínio/genética , Humanos , Recém-Nascido , Mutação , Imunodeficiência Combinada Severa/diagnóstico , SíndromeRESUMO
A neonatal boy presented with a persistent urticarial rash. Initial investigations showed raised inflammatory markers and evidence of systemic inflammation. A working diagnosis of cryopyrin-associated periodic syndrome (CAPS) was made, and the patient responded extremely well to Anakinra. Molecular genetic testing revealed a somatic mutation (affecting 12.5% of cells) in the NLRP3 gene, accounting for the persistent inflammatory state but milder phenotype as seen in our patient.
Assuntos
Antirreumáticos/uso terapêutico , Síndromes Periódicas Associadas à Criopirina/diagnóstico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Urticária/etiologia , Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico , Humanos , Recém-Nascido , Masculino , Mutação , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Pele/patologiaRESUMO
Practical procedures play a crucial role in clinical outcome. High proportions of Mersey trainees report a lack of procedural confidence despite the fact that the majority want to perform more procedures. Training has to be carefully analysed to address these shortcomings.
