Диагностика первичных иммунодефицитов: от задержки в 25 лет до доступного генетического тестирования

Autoimmune Disorders Awareness Diagnostic process for primary immunodeficiencies Transcript Editor’s note: This is an automatically generated transcript. Please notify [email protected] if there are concerns regarding accuracy of the transcription. Yeah, so primary immunodeficiencies are diagnosed first by really maintaining a high index of suspicion. I think the problem with, immune deficiency diagnosis is that there's often a delay in diagnosis, and a, a recent survey, by the Immune Deficiency Foundation in twenty twenty-three showed that that delay can be upwards of almost twenty-five years from the time that somebody manifests symptoms. There is a 10 warning signs that was published by the Jeffrey Modell Foundation, and while that continues to remain clinically useful, things have changed. So some of those warning signs include a family history or two or more pneumonias in a calendar year. But as mentioned before, we, we know that patients are more complex, and keeping a eye out for autoimmunity, malignancy, autoinflammation, even severe allergies can help bring patients to diagnosis. The initial diagnosis is pretty straightforward in terms of testing. It's usually blood testing, so a complete blood cell count, quantitative immunoglobulins, lymphocyte subsets, including T cells, B cells, and NK cells. The use of the assessment of response to childhood vaccines, so things like diphtheria, tetanus, and streptococcus pneumoniae. And in some cases, complement testing, although complement testing is a minority, usually less than five percent of all immune deficiencies. These tests are relatively inexpensive. Many of them are available in commercial labs. And then for patients who either have unexplained symptoms or where the initial laboratory test may be normal, genetic testing has been used with Genetic testing involves typically a, a buccal swab or blood testing, and this can be sent for things like targeted next-generation sequencing, whole exome sequencing, whole genome sequencing. The prices for those tests have really come down in the last five years, and the turnaround time can be as quick as two to four weeks in some cases.