Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report
Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (...
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Instituto Nacional de Salud
2024-12-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
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| Online Access: | https://revistabiomedica.org/index.php/biomedica/article/view/7436 |
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| author | Mónica Fernandes-Pineda Andrés F. Zea-Vera |
| author_facet | Mónica Fernandes-Pineda Andrés F. Zea-Vera |
| author_sort | Mónica Fernandes-Pineda |
| collection | DOAJ |
| description | Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome. Notably, the clinical presentations of this syndrome often closely resemble those of other primary immunodeficiencies.
We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome
sequencing was undertaken to pinpoint the underlying genetic mutation.
Our investigation successfully identified a heterozygous splice site mutation previously reported within the well-established hotspot of the PIK3R1 gene (GRCh37, c.1425+1 G>T). The diverse spectrum of inborn errors of immunity underscores the pivotal role of identifying gene mutations, particularly in patients presenting clinical manifestations spanning autoimmune disorders, lymphoproliferative conditions, and antibody deficiencies. Such precise genetic diagnoses hold significant potential for improving patient care and management. |
| format | Article |
| id | doaj-art-19ff888161b34f88998f6f45ae13f4db |
| institution | Kabale University |
| issn | 0120-4157 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Biomédica: revista del Instituto Nacional de Salud |
| spelling | doaj-art-19ff888161b34f88998f6f45ae13f4db2025-01-21T18:56:10ZengInstituto Nacional de SaludBiomédica: revista del Instituto Nacional de Salud0120-41572024-12-0144Sp. 2101510.7705/biomedica.74368891Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case reportMónica Fernandes-Pineda0https://orcid.org/0000-0003-4891-543XAndrés F. Zea-Vera1https://orcid.org/0000-0001-9127-3677Departamento de Medicina Interna, Universidad del Valle, Cali, ColombiaDepartamento de Microbiología, Facultad de Salud, Universidad del Valle, Cali, Colombia; Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disorders, National Institutes of Health, Bethesda, MD, USAActivated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome. Notably, the clinical presentations of this syndrome often closely resemble those of other primary immunodeficiencies. We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome sequencing was undertaken to pinpoint the underlying genetic mutation. Our investigation successfully identified a heterozygous splice site mutation previously reported within the well-established hotspot of the PIK3R1 gene (GRCh37, c.1425+1 G>T). The diverse spectrum of inborn errors of immunity underscores the pivotal role of identifying gene mutations, particularly in patients presenting clinical manifestations spanning autoimmune disorders, lymphoproliferative conditions, and antibody deficiencies. Such precise genetic diagnoses hold significant potential for improving patient care and management.https://revistabiomedica.org/index.php/biomedica/article/view/7436immune system diseasesphosphatidylinositol 3-kinasehyper-igm immunodeficiency syndromeautoimmunityhuman geneticsgenetic testing |
| spellingShingle | Mónica Fernandes-Pineda Andrés F. Zea-Vera Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report Biomédica: revista del Instituto Nacional de Salud immune system diseases phosphatidylinositol 3-kinase hyper-igm immunodeficiency syndrome autoimmunity human genetics genetic testing |
| title | Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report |
| title_full | Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report |
| title_fullStr | Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report |
| title_full_unstemmed | Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report |
| title_short | Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report |
| title_sort | lymphoproliferation and hyper igm as the first manifestation of activated phosphoinositide 3 kinase δ syndrome a case report |
| topic | immune system diseases phosphatidylinositol 3-kinase hyper-igm immunodeficiency syndrome autoimmunity human genetics genetic testing |
| url | https://revistabiomedica.org/index.php/biomedica/article/view/7436 |
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