| Autor: |
Sara Ciullini Mannurita, Rayan Goda, Ebe Schiavo, Maria Luisa Coniglio, Annachiara Azzali, Ilaria Fotzi, Annalisa Tondo, Veronica Tintori, Stefano Frenos, Maria Chiara Sanvito, Marina Vignoli, Cristina Luceri, Elisabetta Bigagli, Alessia Grassi, Mario Milco D’Elios, Claudio Favre, Eleonora Gambineri |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Frontiers in Immunology, Vol 11 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1664-3224 |
| DOI: |
10.3389/fimmu.2020.620046 |
| Popis: |
STAT3 gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of other organ autoimmunity, growth impairment, or severe infections. We hereby report a case with an incomplete form of STAT3 GOF intensified by a concomitant hereditary hematological disease, which misleads the diagnosis. The patient presented with lymphadenopathy, splenomegaly, hypogammaglobulinemia, and severe autoimmune hemolytic anemia (AIHA) with critical complications, including stroke. A Primary Immune Regulatory Disorders (PIRD) was suspected, and molecular analysis revealed a de novo STAT3 gain-of-function mutation. The response to multiple immune suppressive treatments was ineffective, and further investigations revealed a spectrin deficiency. Ultimately, hematopoietic stem cell transplantation from a matched unrelated donor was able to cure the patient. Our case shows an atypical presentation of STAT3 GOF associated with hereditary spherocytosis, and how achievement of a good long-term outcome depends on a strict clinical and laboratory monitoring, as well as on prompt therapeutic intervention. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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