Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect?
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality...
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2024-12-01
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| author | Roberta Romano Francesca Cillo Laura Grilli Alessio Ciaccio Lorenzo Bufalo Elisabetta Toriello Antonio De Rosa Carmen Rosano Emilia Cirillo Giancarlo Blasio Marika Comegna Carmela Di Domenico Giuseppe Castaldo Claudio Pignata Giuliana Giardino |
| author_facet | Roberta Romano Francesca Cillo Laura Grilli Alessio Ciaccio Lorenzo Bufalo Elisabetta Toriello Antonio De Rosa Carmen Rosano Emilia Cirillo Giancarlo Blasio Marika Comegna Carmela Di Domenico Giuseppe Castaldo Claudio Pignata Giuliana Giardino |
| author_sort | Roberta Romano |
| collection | DOAJ |
| description | MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy. They underwent a comprehensive immunological work-up including targeted next-generation sequencing for IEIs that identified a homozygous pathogenic in-frame deletion c.157_159del p.(Glu53del) in <i>MYD88</i> gene, already described in this ethnic group, suggesting a founder effect. A high level of alert should be kept in patients of Roma ethnicity with early onset severe infections. Moreover, being associated with increased Immunoglobulin E (IgE) levels, this condition should be included in the differential diagnosis of Hyper-IgE syndromes. |
| format | Article |
| id | doaj-art-717bfb0f5ed745099558b8caf2d82188 |
| institution | Kabale University |
| issn | 2075-1729 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj-art-717bfb0f5ed745099558b8caf2d821882025-01-24T13:38:28ZengMDPI AGLife2075-17292024-12-011512010.3390/life15010020Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect?Roberta Romano0Francesca Cillo1Laura Grilli2Alessio Ciaccio3Lorenzo Bufalo4Elisabetta Toriello5Antonio De Rosa6Carmen Rosano7Emilia Cirillo8Giancarlo Blasio9Marika Comegna10Carmela Di Domenico11Giuseppe Castaldo12Claudio Pignata13Giuliana Giardino14Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyCentre for Advanced Biotechnology (CEINGE), 80131 Naples, ItalyCentre for Advanced Biotechnology (CEINGE), 80131 Naples, ItalyCentre for Advanced Biotechnology (CEINGE), 80131 Naples, ItalyCentre for Advanced Biotechnology (CEINGE), 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, ItalyMyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy. They underwent a comprehensive immunological work-up including targeted next-generation sequencing for IEIs that identified a homozygous pathogenic in-frame deletion c.157_159del p.(Glu53del) in <i>MYD88</i> gene, already described in this ethnic group, suggesting a founder effect. A high level of alert should be kept in patients of Roma ethnicity with early onset severe infections. Moreover, being associated with increased Immunoglobulin E (IgE) levels, this condition should be included in the differential diagnosis of Hyper-IgE syndromes.https://www.mdpi.com/2075-1729/15/1/20inborn errors of immunityfounder effectpyogenic infectionsMyD88next generation sequencing |
| spellingShingle | Roberta Romano Francesca Cillo Laura Grilli Alessio Ciaccio Lorenzo Bufalo Elisabetta Toriello Antonio De Rosa Carmen Rosano Emilia Cirillo Giancarlo Blasio Marika Comegna Carmela Di Domenico Giuseppe Castaldo Claudio Pignata Giuliana Giardino Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? Life inborn errors of immunity founder effect pyogenic infections MyD88 next generation sequencing |
| title | Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? |
| title_full | Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? |
| title_fullStr | Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? |
| title_full_unstemmed | Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? |
| title_short | Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? |
| title_sort | three unrelated patients of roma ethnicity from a single center carrying the same deletion in i myd88 i gene a founder effect |
| topic | inborn errors of immunity founder effect pyogenic infections MyD88 next generation sequencing |
| url | https://www.mdpi.com/2075-1729/15/1/20 |
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