Evaluation of Adenosine Deaminase (ADA) Enzyme Deficiency in Patients With Lymphopenia and/or Elevated Immunoglobulin E

Launched by TRPHARM · Mar 18, 2022

Keywords

ClinConnect Summary

Primary immunodeficiencies are encountered with signs and symptoms related to various disciplines of medicine and are detected more often in our country than in other societies.

Severe Combined Immunodeficiencies (SCID) are a heterogeneous group of diseases caused by hereditary errors in genes involved in the development and/or function of T, B, and sometimes NK cells, which cause serious dysfunction of the immune system. The incidence is estimated at 1/100,000 live births in the USA. Although the exact incidence of inbreeding is not known in our country, where inbreeding is common, it is ...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Signing of the written informed consent form by the patient and/or his legal representative,
• • The patient is between 18 and 40 years of age.
• * Patients with one major and one minor criteria from the following criteria will be included in the study:
• Major Criteria:
• • 1. Lymphopenia: The patient has lymphopenia as a result of at least one hemogram,
• • -The number of lymphocytes is below 1500/mm3
• • 2. Immunoglobulin E height: The level of immunoglobulin E is above 120 kU/L.
• Minor Criteria:
• • 1. Two or more new ear infections within a year
• • 2. Two or more new sinus infections within a year when there is no allergy
• • 3. One pneumonia per year for more than a year
• • 4. Chronic diarrhea with weight loss
• • 5. Recurrent viral infections (Colds, herpes, warts, condyloma)
• • 6. The need for repeated intravenous antibiotics to clear infections
• • 7. Recurrent deep skin or internal organ abscesses
• • 8. Persistent thrush or fungal infection of the skin or other place
• • 9. Infection caused by tuberculosis-like bacteria that is normally harmless
• • 10. Primary immunodeficiency in the family
• Exclusion Criteria:
• • 1. Having used drugs that can cause lymphopenia before being included in the study (chemotherapy, cytotoxic drug use, etc.),
• • 2. The Ministry of Health COVID-19 diagnosis guide (nazofaringeal, nasal orofaringiyal or SARS-CoV-2 RNA PCR test and/or tomographic) as COVID-19, diagnosed and/or persons who had contact with patient recruitment criteria, patients diagnosed in this manner karsilasal PCR tests were negative even after those patients in the study will be taken.
• • 3. Before being included in the study, it should be noted that other diseases that can cause lymphopenia (hematological diseases, oncological diseases, etc.) have been diagnosed with,
• • 4. The patient has participated in an interventional clinical trial within the last 30 days,
• • 5. Failure of the patient himself and/or his legal representative to give their consent to participate in the study,
• • 6. According to the researcher's opinion, the patient will not be able to properly fulfill the study requirements,
• • 7. Pregnancy and/or lactation period,
• • 8. The fact that the volunteer participating in