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Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia
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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843414/ https://www.ncbi.nlm.nih.gov/pubmed/33519826 http://dx.doi.org/10.3389/fimmu.2020.620046 |
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author | Ciullini Mannurita, Sara Goda, Rayan Schiavo, Ebe Coniglio, Maria Luisa Azzali, Annachiara Fotzi, Ilaria Tondo, Annalisa Tintori, Veronica Frenos, Stefano Sanvito, Maria Chiara Vignoli, Marina Luceri, Cristina Bigagli, Elisabetta Grassi, Alessia D’Elios, Mario Milco Favre, Claudio Gambineri, Eleonora |
author_facet | Ciullini Mannurita, Sara Goda, Rayan Schiavo, Ebe Coniglio, Maria Luisa Azzali, Annachiara Fotzi, Ilaria Tondo, Annalisa Tintori, Veronica Frenos, Stefano Sanvito, Maria Chiara Vignoli, Marina Luceri, Cristina Bigagli, Elisabetta Grassi, Alessia D’Elios, Mario Milco Favre, Claudio Gambineri, Eleonora |
author_sort | Ciullini Mannurita, Sara |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7843414 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-78434142021-01-30 Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia Ciullini Mannurita, Sara Goda, Rayan Schiavo, Ebe Coniglio, Maria Luisa Azzali, Annachiara Fotzi, Ilaria Tondo, Annalisa Tintori, Veronica Frenos, Stefano Sanvito, Maria Chiara Vignoli, Marina Luceri, Cristina Bigagli, Elisabetta Grassi, Alessia D’Elios, Mario Milco Favre, Claudio Gambineri, Eleonora Front Immunol Immunology 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. Frontiers Media S.A. 2021-01-15 /pmc/articles/PMC7843414/ /pubmed/33519826 http://dx.doi.org/10.3389/fimmu.2020.620046 Text en Copyright © 2021 Ciullini Mannurita, Goda, Schiavo, Coniglio, Azzali, Fotzi, Tondo, Tintori, Frenos, Sanvito, Vignoli, Luceri, Bigagli, Grassi, D’Elios, Favre and Gambineri http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Ciullini Mannurita, Sara Goda, Rayan Schiavo, Ebe Coniglio, Maria Luisa Azzali, Annachiara Fotzi, Ilaria Tondo, Annalisa Tintori, Veronica Frenos, Stefano Sanvito, Maria Chiara Vignoli, Marina Luceri, Cristina Bigagli, Elisabetta Grassi, Alessia D’Elios, Mario Milco Favre, Claudio Gambineri, Eleonora Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title | Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title_full | Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title_fullStr | Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title_full_unstemmed | Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title_short | Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia |
title_sort | case report: signal transducer and activator of transcription 3 gain-of-function and spectrin deficiency: a life-threatening case of severe hemolytic anemia |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843414/ https://www.ncbi.nlm.nih.gov/pubmed/33519826 http://dx.doi.org/10.3389/fimmu.2020.620046 |
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