RESUMO
The original version of this article unfortunately contained mistakes in some of the author names and affiliations. The correct list of author names and affiliations is below, with the corrections in bold.
RESUMO
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey. Finally, we delineate the CIS's recommendations for the use of genetic testing in light of these issues.
Assuntos
Testes Genéticos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Biomarcadores , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Testes Genéticos/normas , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Síndromes de Imunodeficiência/terapia , Diagnóstico Pré-Natal , Análise de Sequência de DNARESUMO
OBJECTIVES: Primary immunodeficiency diseases (PIDDs) are caused by inherent deficits in immune defenses that result in abnormal susceptibility to infection. In most cases, early and appropriate diagnosis can improve patient outcomes. The objective of this study was to evaluate understanding, recognition, and diagnosis of PIDD among pediatricians. METHODS: A mail survey sent to a sample of pediatricians obtained from the American Medical Association and American Osteopathic Association. Results were compared with a similar survey of specialists who are members of the American Academy of Asthma, Allergy and Immunology. RESULTS: More than a third (35%) of pediatricians were uncomfortable with the recognition and diagnosis of PIDD despite 95% having ordered screening tests or referring patients to specialists to be evaluated for PIDD, and 77% having followed at leastone patient with PIDD. In all, 84% of pediatricians were unaware that professional guidelines for PIDD exist. CONCLUSIONS: Patients with PIDD would benefit from improved recognition of the diseases by pediatricians in order to facilitate earlier diagnosis and optimize ongoing therapy.
Assuntos
Atitude do Pessoal de Saúde , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Síndromes de Imunodeficiência/terapia , Pediatria/estatística & dados numéricos , Médicos/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Humanos , Encaminhamento e Consulta , Estados UnidosRESUMO
The cause of a fever of unknown origin (FUO, fever of >21 days without an identified etiology) may be a common illness, an atypical presentation of a common illness, or an unusual illness. A patient with an FUO occasionally presents to the emergency department (ED). The differential diagnosis of an FUO is extensive. A primary goal for the ED physician is to determine if the patient with an FUO has a disorder that needs immediate recognition and treatment. We describe a case of a teenage boy who presented to our ED with 2 weeks of high fever and back pain. We describe this teenage boy with FUO and a surprising diagnosis.
