Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hosp...
| Main Authors: | , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-05-01
|
| Series: | Microorganisms |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-2607/11/5/1202 |
| _version_ | 1797598987041112064 |
|---|---|
| author | Assiya El Kettani Fatima Ailal Farida Marnissi Fouzia Hali Jalila El Bakkouri Ibtihal Benhsaien Tom Le Voyer Mame Sokhna Guèye Rémi Chevalier Soumiya Chiheb Khalid Zerouali Emmanuelle Jouanguy Jean-Laurent Casanova Ahmed Aziz Bousfiha |
| author_facet | Assiya El Kettani Fatima Ailal Farida Marnissi Fouzia Hali Jalila El Bakkouri Ibtihal Benhsaien Tom Le Voyer Mame Sokhna Guèye Rémi Chevalier Soumiya Chiheb Khalid Zerouali Emmanuelle Jouanguy Jean-Laurent Casanova Ahmed Aziz Bousfiha |
| author_sort | Assiya El Kettani |
| collection | DOAJ |
| description | Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed with a probable IEI, eight of them (1.3%), from six independent families, had isolated or syndromic unusual viral skin infections, which were either profuse, chronic or recurrent infections, and resistant to any treatment. The median age of disease onset was nine years old and all patients were born from a first-degree consanguineous marriage. By combining clinical, immunological and genetic investigations, we identified GATA2 deficiency in one patient with recalcitrant profuse verrucous lesions and monocytopenia (1/8) and STK4 deficiency in two families with HPV lesions, either flat or common warts, and lymphopenia (2/8), as previously reported. We also identified COPA deficiency in twin sisters with chronic profuse Molluscum contagiosum lesions, pulmonary diseases and microcytic hypochromic anemia (2/8). Finally, we also found one patient with chronic profuse MC lesions and hyper IgE syndrome, (1/8) and two patients with either recalcitrant profuse verrucous lesions or recurrent post-herpetic erythema multiforme and a combined immunodeficiency (2/8) with no genetic defect identified yet. Raising clinicians awareness that infectious skin diseases might be the consequence of an inborn error of immunity would allow for optimized diagnosis, prevention and treatment of patients and their families. |
| first_indexed | 2024-03-11T03:28:23Z |
| format | Article |
| id | doaj.art-6607460800be44568d05969cd0fac55f |
| institution | Directory Open Access Journal |
| issn | 2076-2607 |
| language | English |
| last_indexed | 2024-03-11T03:28:23Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Microorganisms |
| spelling | doaj.art-6607460800be44568d05969cd0fac55f2023-11-18T02:33:17ZengMDPI AGMicroorganisms2076-26072023-05-01115120210.3390/microorganisms11051202Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 PatientsAssiya El Kettani0Fatima Ailal1Farida Marnissi2Fouzia Hali3Jalila El Bakkouri4Ibtihal Benhsaien5Tom Le Voyer6Mame Sokhna Guèye7Rémi Chevalier8Soumiya Chiheb9Khalid Zerouali10Emmanuelle Jouanguy11Jean-Laurent Casanova12Ahmed Aziz Bousfiha13Laboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Pathological Anatomy, Ibn Rochd University Hospital, Hassan II University, Casablanca 20250, MoroccoDepartment of Dermatology, Ibn Rochd University Hospital, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceInstitute for Health Research, Epidemiological Surveillance and Training, Dakar 7325, SenegalLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceDepartment of Dermatology, Ibn Rochd University Hospital, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceLaboratory of Clinical Immunology-Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoUnusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed with a probable IEI, eight of them (1.3%), from six independent families, had isolated or syndromic unusual viral skin infections, which were either profuse, chronic or recurrent infections, and resistant to any treatment. The median age of disease onset was nine years old and all patients were born from a first-degree consanguineous marriage. By combining clinical, immunological and genetic investigations, we identified GATA2 deficiency in one patient with recalcitrant profuse verrucous lesions and monocytopenia (1/8) and STK4 deficiency in two families with HPV lesions, either flat or common warts, and lymphopenia (2/8), as previously reported. We also identified COPA deficiency in twin sisters with chronic profuse Molluscum contagiosum lesions, pulmonary diseases and microcytic hypochromic anemia (2/8). Finally, we also found one patient with chronic profuse MC lesions and hyper IgE syndrome, (1/8) and two patients with either recalcitrant profuse verrucous lesions or recurrent post-herpetic erythema multiforme and a combined immunodeficiency (2/8) with no genetic defect identified yet. Raising clinicians awareness that infectious skin diseases might be the consequence of an inborn error of immunity would allow for optimized diagnosis, prevention and treatment of patients and their families.https://www.mdpi.com/2076-2607/11/5/1202viral infectionskin infectioninborn errors of immunitydiagnosis |
| spellingShingle | Assiya El Kettani Fatima Ailal Farida Marnissi Fouzia Hali Jalila El Bakkouri Ibtihal Benhsaien Tom Le Voyer Mame Sokhna Guèye Rémi Chevalier Soumiya Chiheb Khalid Zerouali Emmanuelle Jouanguy Jean-Laurent Casanova Ahmed Aziz Bousfiha Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients Microorganisms viral infection skin infection inborn errors of immunity diagnosis |
| title | Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients |
| title_full | Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients |
| title_fullStr | Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients |
| title_full_unstemmed | Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients |
| title_short | Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients |
| title_sort | atypical cutaneous viral infections reveal an inborn error of immunity in 8 patients |
| topic | viral infection skin infection inborn errors of immunity diagnosis |
| url | https://www.mdpi.com/2076-2607/11/5/1202 |
| work_keys_str_mv | AT assiyaelkettani atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT fatimaailal atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT faridamarnissi atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT fouziahali atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT jalilaelbakkouri atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT ibtihalbenhsaien atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT tomlevoyer atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT mamesokhnagueye atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT remichevalier atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT soumiyachiheb atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT khalidzerouali atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT emmanuellejouanguy atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT jeanlaurentcasanova atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients AT ahmedazizbousfiha atypicalcutaneousviralinfectionsrevealaninbornerrorofimmunityin8patients |