Approach to Diagnosing Inborn Errors of Immunity.
Rheum Dis Clin North Am
; 49(4): 731-739, 2023 11.
Article
em En
| MEDLINE
| ID: mdl-37821192
ABSTRACT
Inborn errors of immunity are now understood to encompass manifold features including but not limited to immunodeficiency, autoimmunity, autoinflammation, atopy, bone marrow defects, and/or increased malignancy risk. As such, it is essential to maintain a high index of suspicion, as these disorders are not limited to specific demographics such as children or those with recurrent infections. Clinical presentations and standard immunophenotyping are informative for suggesting potential underlying etiologies, but integration of data from multimodal approaches including genomics is often required to achieve diagnosis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoimunidade
/
Genômica
/
Doenças da Imunodeficiência Primária
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Rheum Dis Clin North Am
Assunto da revista:
REUMATOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos