Rare Medical News
Advertisement
Spotlight On
LRBA Deficiency
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis
Prevalence
1/5,000,000
200–500
US Estimated
300–800
Europe Estimated
Age of Onset
ICD-10
D83.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
LRBA-deficient individuals are particularly susceptible to autoimmune endocrinopathies such as type 1 diabetes and autoimmune thyroiditis, often presenting early in life
FACT
Chronic diarrhea and enteropathy resembling inflammatory bowel disease are frequent, sometimes leading to malnutrition and growth failure
FACT
In addition to bacterial infections, patients may exhibit recurrent or severe viral infections (e.g., EBV, CMV), due to compromised cytotoxic T-cell function
FACT
Abatacept (a CTLA-4-Ig fusion protein) has shown efficacy in controlling autoimmunity in LRBA-deficient patients by compensating for CTLA-4 dysfunction
FACT
Hematopoietic stem cell transplantation is a potential curative option for severe cases, particularly when refractory to medical management
Interest over time
Google searches
Common signs and symptoms
Recurrent bacterial, viral, or fungal infections
Autoimmune disorders
cytopenias, enteropathy, type 1 diabetes
Enlarged lymph nodes and spleen
Chronic diarrhea
Failure to thrive or growth delay
Low immunoglobulin levels
Current treatments
Immunoglobulin replacement therapy (IVIG/SCIG)
Immunosuppressive drugs
e.g., steroids, sirolimus
Abatacept
CTLA-4 agonist, targets immune dysregulation
Hematopoietic stem cell transplant (HSCT)
for severe/refractory cases