Related Experiment Video
Updated: Jun 9, 2026
08:56
Derivation of Glial Restricted Precursors from E13 mice
Published on: June 20, 2012
RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia
Kosar Asna Ashari1,2,3,4, Bahareh Yaghmaie5, Neda Pak2
1Department of Pediatrics Tehran University of Medical Sciences Tehran Iran.
Ejhaem
|June 8, 2026
Summary
RASGRP1 deficiency, a rare inborn error of immunity, can cause severe vasculopathy and autoimmune complications. Early genetic diagnosis and hematopoietic stem cell transplantation are crucial for managing this condition.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- RASGRP1 deficiency is a rare inborn error of immunity.
- It is characterized by immunodeficiency, autoimmunity, and lymphoproliferation.
Purpose of the Study:
- To report a novel case of RASGRP1 deficiency.
- To highlight the emerging phenotype of vascular autoimmunity.
Main Methods:
- Case report of a 5-year-old male.
- Genetic analysis identifying novel homozygous splice-donor mutations in RASGRP1.
- Review of 14 previously reported cases and the current case.
Main Results:
- The patient presented with severe vasculopathy, including ischemic stroke and thrombosis.
- Secondary antiphospholipid syndrome and fatal refractory autoimmune hemolytic anemia were observed.
- Infections (100%) and lymphoproliferation (87%) are common in RASGRP1 deficiency.
Conclusions:
- Vascular autoimmunity is an emerging, life-threatening phenotype in RASGRP1 deficiency.
- Hematopoietic stem cell transplantation is the only curative therapy.
- Early genetic diagnosis is essential for optimal management.
Related Concept Videos
01:23Rheumatic Heart Disease I: Introduction
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
01:19Rh Blood Group
The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:29Hemorrhagic Stroke ll: Pathophysiology
A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:12Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...