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Related Concept Videos

Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum sickness, a systemic...
Hypersensitivity Reactions: Cytolytic Reactions01:01

Hypersensitivity Reactions: Cytolytic Reactions

Type II hypersensitivity involves IgG and IgM antibodies targeting cell surface antigens, leading to cell destruction. This can occur through complement activation, antibody-dependent cell-mediated cytotoxicity (ADCC), or acting as opsonins for phagocytosis. When excessive, these reactions cause significant tissue damage.Drug-induced hemolytic anemia is a common example, where drugs like penicillin or cephalosporins bind to red blood cells, forming drug-protein complexes. These complexes...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cytotoxic Edema: Pathophysiology01:21

Cytotoxic Edema: Pathophysiology

Cytotoxic edema is a form of cerebral edema characterized by intracellular swelling of neurons, astrocytes, and other glial cells. It develops when the mechanisms responsible for maintaining ionic gradients across the cell membrane become impaired. Under normal physiological conditions, the sodium–potassium ATPase actively transports sodium ions out of the cell and potassium ions into the cell, preserving osmotic balance and enabling electrical signaling. This pump requires a continuous supply...

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Related Experiment Video

Updated: May 11, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
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Published on: October 12, 2012

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

Z Birsin Ozçakar1, Joseph Foster, Oscar Diaz-Horta

  • 1Ankara University School of Medicine, Ankara, Turkey.

Arthritis and Rheumatism
|May 14, 2013
PubMed
Summary

Mutations in the DNASE1L3 gene cause hypocomplementemic urticarial vasculitis syndrome (HUVS), a condition linked to systemic lupus erythematosus (SLE). This discovery aids in understanding HUVS pathogenesis and diagnosis.

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Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Hypocomplementemic urticarial vasculitis syndrome (HUVS) presents with urticaria, vasculitis, arthritis, and glomerulonephritis.
  • Over 50% of HUVS patients develop systemic lupus erythematosus (SLE), but the underlying cause remains unclear.

Purpose of the Study:

  • To identify the specific DNA mutations responsible for autosomal-recessive HUVS in two families.
  • To elucidate the pathogenesis of HUVS and improve laboratory diagnostic methods.

Main Methods:

  • Employed autozygosity mapping combined with whole-exome sequencing to analyze affected individuals.
  • Utilized a plasmid nicking assay to confirm the functional impact of identified mutations.

Main Results:

  • Identified homozygous frameshift mutation c.289_290delAC in DNASE1L3 in one family.
  • Discovered a homozygous mutation (c.320+4delAGTA) causing exon skipping in DNASE1L3 in an unrelated family.
  • Confirmed that these DNASE1L3 mutations result in loss of function, impacting endonuclease activity.

Conclusions:

  • Established that mutations in DNASE1L3 are the cause of HUVS.
  • Linked DNASE1L3, an endonuclease, to the pathogenesis of HUVS and its association with SLE.