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Related Concept Videos

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
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...
Increased Intracranial Pressure ll: Pathophysiology01:29

Increased Intracranial Pressure ll: Pathophysiology

Increased intracranial pressure (ICP) refers to a potentially life-threatening rise in pressure inside the skull. This usually happens when there is a major change in the volume of brain tissue, blood, or cerebrospinal fluid (CSF) — the three components inside the skull. According to the Monro-Kellie doctrine, if the volume of one component increases, the volumes of the other components must decrease to maintain normal pressure. If this does not happen, ICP rises.The process often begins with...
Hypersensitivity Reactions: Delayed Hypersensitivity Reactions01:29

Hypersensitivity Reactions: Delayed Hypersensitivity Reactions

Delayed-Type Hypersensitivity (DTH), or Type IV hypersensitivity, is a cell-mediated immune response. It occurs when T cells, rather than antibodies, mediate a reaction to specific antigens. It is characterized by a delayed onset (1-2 days) and involves the recruitment of macrophages to the inflammation site.The initiation of a DTH response begins with the sensitization of T cells. During this phase, which lasts at least 1-2 weeks, antigen-specific T cells are activated, clonally expanded, and...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

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 fluid...
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...

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Related Experiment Video

Updated: May 27, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Johanson-Blizzard syndrome.

Nabeel Almashraki1, Mukarram Zainuddin Abdulnabee, Maja Sukalo

  • 1Department of Pediatric, Al-Thawra Teaching Hospital, 25122 Sana`a, Yemen. al_mashraki@yahoo.com

World Journal of Gastroenterology
|November 11, 2011
PubMed
Summary
This summary is machine-generated.

Johanson-Blizzard syndrome (JBS) is a rare genetic disorder. This study reports a novel UBR1 mutation in a patient with JBS, identifying anemia and thrombocytopenia as potential new clinical features.

Keywords:
Alae nasi aplasiaAnemiaCutis aplasiaExocrine pancreatic insufficiencyJohanson-Blizzard syndrome

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Induction of Experimental Autoimmune Hypophysitis in SJL Mice
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Induction of Experimental Autoimmune Hypophysitis in SJL Mice

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

Induction of Experimental Autoimmune Hypophysitis in SJL Mice
10:38

Induction of Experimental Autoimmune Hypophysitis in SJL Mice

Published on: December 17, 2010

Area of Science:

  • Genetics and rare diseases
  • Pediatric medicine
  • Molecular biology

Background:

  • Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder.
  • Characterized by pancreatic insufficiency, nasal alae hypoplasia/aplasia, and scalp cutis aplasia.
  • Associated with developmental delay, failure to thrive, hearing loss, and other anomalies.

Observation:

  • A case of a male infant presenting with typical JBS symptoms is described.
  • A previously undocumented clinical feature of anemia requiring transfusions and thrombocytopenia was observed.
  • Molecular analysis identified a novel homozygous UBR1 mutation.

Findings:

  • The study links a novel UBR1 mutation to Johanson-Blizzard syndrome.
  • Anemia and thrombocytopenia are presented as potential new clinical manifestations of JBS.
  • This expands the known clinical spectrum of the syndrome.

Implications:

  • Highlights the genetic heterogeneity of Johanson-Blizzard syndrome.
  • Suggests the need for monitoring hematological parameters in JBS patients.
  • Contributes to a better understanding of UBR1 function and related disorders.