Markedly Elevated Serum IgE in a Patient With Thrombocytopenia and a TUBA8 Variant of Uncertain Significance: A Case Report
Seyed Hesamodin Nabavizadeh, Aida Askarisarvestani, Maryam Esmaeilbeig, Mahdi ShahriariBackground
Inherited macrothrombocytopenia comprises a heterogeneous group of platelet disorders characterized by low platelet counts and abnormally enlarged platelets, with clinical presentations ranging from absent to mild bleeding tendencies. Multiple genes involved in platelet cytoskeletal architecture and thrombopoiesis have been identified; among them, TUBA8 was recently recognized to encode tubulin alpha‐8, a critical component contributing to microtubule polymerization and organization.
Case presentation
The patient was a 12‐year‐old boy being treated for thrombocytopenia who presented with eczematous lesions and atopic symptoms. The patient had significantly elevated immunoglobulin E (IgE) of 9300 IU/mL. In whole exome sequencing; the patient revealed an autosomal dominant mutation in TUBA8 gene, a variant of unknown significance, which is known to cause macrothrombocytopenia.
Conclusion
This report of the unusual coexistence of macrothrombocytopenia, markedly elevated serum IgE, and a heterozygous TUBA8 variant of uncertain significance (VUS) underscore the importance of evaluating extra‐hematologic features in tubulin‐associated disorders and warrant further functional studies to delineate the role of α8‐tubulin in immune homeostasis.