Article

CVID-8 in a Compound Heterozygous LRBA Mutation Carrier Presenting as Refractory ITP in a Pediatric Patient

2026-05-08

Abstract excerpt

<h4>Background: </h4> Common Variable Immunodeficiency (CVID), a heterogeneous syndrome characterized by hypogammaglobulinemia and defective humoral immunity, is the most prevalent symptomatic primary immunodeficiency. CVID-8 is a monogenic variant due to bi-allelic mutation in the LRBA gene. Individuals carrying a single mutated LRBA allele are considered phenotypically healthy. However, immune dysregulation may...

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Literature Corpus work: 9d2cfbf9-f5ff-572d-807f-af552de0e77f
DOI: 10.20944/preprints202605.0476.v1

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