| Autor: |
Shajari, Ahmad, Zare Ahmadabadi, Atefe, Ashrafi, Mohammad Moein, Mahdavi, Tolue, Mirzaee, Mahbubeh, Mohkam, Masoumeh, Sharafian, Samin, Tamiji, Mehrdad, Jamee, Mahnaz |
| Zdroj: |
International Urology & Nephrology; Jun2024, Vol. 56 Issue 6, p1965-1972, 8p |
| Abstrakt: |
Human inborn errors of immunity (IEIs), previously referred to as primary immunodeficiency disorders (PIDs), are a heterogeneous spectrum of inherited abnormalities of the immune system with different organ involvement. The number of identified IEIs is rapidly increasing, highlighting the non-negligible role of an interdisciplinary approach in clinical diagnosis. Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and course of disease. According to recent studies, 22 types of human IEI with renal manifestations have been identified so far, including immunodeficiency with congenital thrombocytopenia, thymic defects with additional congenital anomalies, complement deficiencies, type 1 interferonopathies, immunity related to non-hematopoietic tissues, congenital neutropenia's, common variable immunodeficiency disorder (CVID) phenotype and immuno-osseous dysplasia. Based on this classification, we herein review IEIs with renal features and explain the genetic defect, inheritance, and type of renal manifestations. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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