Bare lymphocyte syndrome 2
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 572
Definition
A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
100% of people have these symptoms.
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| Reduced MHC II surface expression |
80%-99% of people have these symptoms.
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| Recurrent respiratory infections |
| Lack of T cell function |
| Profound global developmental delay |
| Gonadal hypoplasia |
| Muscular edema |
| Recurrent infection of the gastrointestinal tract |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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1%-4% of people have these symptoms.
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| Spastic tetraparesis |
| Partial agenesis of the corpus callosum |
| Abnormal facial shape |
| Dysarthria |
| Gait ataxia |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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