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Updated: Oct 19, 2025

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
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Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases

Gaixiu Su1, Jianming Lai2, Jia Zhu1

  • 1Department of Rheumatology and Immunology, Capital Institute of Pediatrics, No.2 Yabao Road, Chaoyang District, Beijing, 100020, China.

Inflammation Research : Official Journal of the European Histamine Research Society ... [Et Al.]
|September 24, 2021
PubMed
Abstract

Insights

Primary immunodeficiencies (PIDs) can manifest as monogenic lupus. Tailored treatments, including targeted therapies and stem cell transplantation, are crucial for managing these rare conditions.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Primary immunodeficiencies (PIDs) are a group of genetic disorders affecting the immune system.
  • Monogenic lupus is a rare autoimmune condition with a known genetic cause.

Observation:

  • This study analyzed five pediatric cases of PID-related monogenic lupus diagnosed between 2017-2020.
  • Patients presented with diverse PIDs, including severe combined immunodeficiency, phosphoinositide 3-kinase delta syndrome, and A20 haploinsufficiency.

Findings:

  • Monogenic lupus can be a secondary manifestation of various PIDs.
  • Treatment approaches varied, including immunosuppressants (prednisone, methotrexate, rituximab, infliximab) and allogeneic stem cell transplantation.

Implications:

  • Understanding the genetic basis of PIDs is essential for diagnosing monogenic lupus.
  • Personalized treatment strategies targeting specific PIDs are critical for effective management and improved outcomes.
Keywords:
ChildrenLupusMonogenicPIDs

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