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Review
. 2024 Jun;56(6):1965-1972.
doi: 10.1007/s11255-023-03907-4. Epub 2024 Jan 10.

Inborn errors of immunity with kidney and urinary tract disorders: a review

Ahmad Shajari  1 , Atefe Zare Ahmadabadi  2 , Mohammad Moein Ashrafi  2 , Tolue Mahdavi  3 , Mahbubeh Mirzaee  4 , Masoumeh Mohkam  4 , Samin Sharafian  2 , Mehrdad Tamiji  5 , Mahnaz Jamee  6
Affiliations
Review

Inborn errors of immunity with kidney and urinary tract disorders: a review

Ahmad Shajari et al. Int Urol Nephrol. 2024 Jun.

Abstract

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.

Keywords: Inborn error of immunity; Kidney; Nephropathy; Primary immunodeficiency; Renal disorder.

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Conflict of interest statement

The authors declare they have no conflict of interest to declare.

Figures

Fig. 1
Fig. 1
Step-wise approach for evaluation of kidney and urinary tract disorders in patients with inborn errors of immunity
See this image and copyright information in PMC

References

    1. Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42(7):1508–1520. doi: 10.1007/s10875-022-01352-z. - DOI - PubMed
    1. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473–1507. doi: 10.1007/s10875-022-01289-3. - DOI - PMC - PubMed
    1. Tangye S, Al-Herz W. Bous ha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. Journal of clinical immunology. 2020;40(1):24–64. - PMC - PubMed
    1. Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020;40(1):66–81. doi: 10.1007/s10875-020-00758-x. - DOI - PMC - PubMed
    1. Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, et al. Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clin Immunol. 2019;205:1–5. doi: 10.1016/j.clim.2019.05.003. - DOI - PubMed

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