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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Updated: Mar 12, 2026

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Monogenic Lupus.

Mindy S Lo1,2

  • 1Division of Immunology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, USA. Mindy.Lo@childrens.harvard.edu.

Current Rheumatology Reports
|November 5, 2016
PubMed
Summary
This summary is machine-generated.

New genetic discoveries are explaining the diverse symptoms of systemic lupus erythematosus (SLE). Studying these genetic disorders may lead to personalized treatments for SLE patients.

Keywords:
Monogenic lupusSLESystemic lupus erythematosusType I interferon

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Area of Science:

  • Immunology
  • Genetics
  • Autoimmune Diseases

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with varied clinical presentations.
  • Genetic factors play a significant role in the pathogenesis and heterogeneity of SLE.
  • Understanding the genetic underpinnings of SLE is crucial for unraveling its immune mechanisms.

Purpose of the Study:

  • To review recent insights into the genetic origins of SLE.
  • To explore how genetic findings explain clinical variability in SLE.
  • To connect genetic discoveries to immune mechanisms in SLE pathogenesis.

Main Methods:

  • Review of current scientific literature on SLE genetics.
  • Analysis of newly described monogenic disorders with lupus-like phenotypes.
  • Organization of genetic findings into relevant physiologic pathways.

Main Results:

  • Several monogenic disorders mimic SLE, highlighting key pathways.
  • Identified genes involved in DNA repair (TREX1), nucleic acid sensing (STING, TREX1), and apoptosis (FASLG).
  • Genes related to tolerance (PRKCD) and self-antigen clearance (DNASE1L3) are implicated.

Conclusions:

  • Monogenic lupus studies offer insights into SLE pathogenesis.
  • Potential for improved genotype/phenotype correlations in SLE.
  • Genetic understanding may enable personalized SLE therapies.