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Peer-reviewedCC BY 4.0Case Reports in Immunology

Markedly Elevated Serum IgE in a Patient With Thrombocytopenia and a TUBA8 Variant of Uncertain Significance: A Case Report

  • Seyed Hesamodin Nabavizadeh1,2
  • Aida Askarisarvestani1,2
  • Maryam Esmaeilbeig2
  • Mahdi Shahriari3
  1. 1Allergy Research Center Shiraz University of Medical Sciences Shiraz Iran sums.ac.ir
  2. 2Department of Allergy and Clinical Immunology Shiraz University of Medical Sciences Shiraz Iran sums.ac.ir
  3. 3Department of Pediatric Hematology and Oncology Shiraz University of Medical Sciences Shiraz Iran sums.ac.ir
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Abstract

Background: 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.

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Cite

BibTeXRIS
BibTeX
@article{nabavizadeh2026markedly,
  title = {{Markedly Elevated Serum IgE in a Patient With Thrombocytopenia and a TUBA8 Variant of Uncertain Significance: A Case Report}},
  author = {Seyed Hesamodin Nabavizadeh and Aida Askarisarvestani and Maryam Esmaeilbeig and Mahdi Shahriari},
  journal = {Case Reports in Immunology},
  year = {2026},
  month = nov,
  doi = {10.1155/crii/4951640},
  url = {https://doi.org/10.1155/crii/4951640},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Markedly Elevated Serum IgE in a Patient With Thrombocytopenia and a TUBA8 Variant of Uncertain Significance: A Case Report
AU  - Seyed Hesamodin Nabavizadeh
AU  - Aida Askarisarvestani
AU  - Maryam Esmaeilbeig
AU  - Mahdi Shahriari
PY  - 2026
DA  - 2026/11/01
JO  - Case Reports in Immunology
DO  - 10.1155/crii/4951640
UR  - https://doi.org/10.1155/crii/4951640
AB  - Background: 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.
SN  - 2090-6609
SN  - 2090-6617
ER  -