Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene
Abstract Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are t...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | Allergy, Asthma & Clinical Immunology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13223-023-00768-5 |
| _version_ | 1797864436668563456 |
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| author | Soodeh Ghadimi Mahnaz Jamee Hassan Abolhassani Nima Parvaneh Nima Rezaei Samaneh Delavari Mahnaz Sadeghi-Shabestari Sedigheh Rafiei Tabatabaei Alireza Fahimzad Shahnaz Armin Zahra Chavoshzadeh Samin Sharafian |
| author_facet | Soodeh Ghadimi Mahnaz Jamee Hassan Abolhassani Nima Parvaneh Nima Rezaei Samaneh Delavari Mahnaz Sadeghi-Shabestari Sedigheh Rafiei Tabatabaei Alireza Fahimzad Shahnaz Armin Zahra Chavoshzadeh Samin Sharafian |
| author_sort | Soodeh Ghadimi |
| collection | DOAJ |
| description | Abstract Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main characteristic of Artemis patients. Method Among 5373 registered patients, 9 Iranian patients (33.3% female) with confirmed DCLRE1C mutation were identified since 1999–2022. The demographic, clinical, immunological and genetic features were collected through retrospective investigation of medical records and using next generation sequencing. Results Seven patients were born in a consanguineous family (77.8%). The median age of onset was 6.0 (5.0–17.0) months. Severe combined immunodeficiency (SCID) was clinically detected at a median (IQR) age of 7.0 (6.0–20.5) months, following a median diagnostic delay of 2.0 (1.0–3.5) months The most typical first presentation was pneumonia (44.4%) and otitis media (3.33%), followed by BCG lymphadenitis (22.2%) and gastroenteritis (11.1%). The most prevalent manifestations were respiratory tract infections (including otitis media) (66.6%) and chronic diarrhea (66.6%). In addition, juvenile idiopathic arthritis (P5) and celiac disease and idiopathic thrombocytopenic purpura (P9) as autoimmune disorders were reported in 2 patients. All patients had reduced B CD19+ and CD4+ cell counts. IgA deficiency occurred in 77.8% of individuals. Conclusion Recurrent infections particulary respiratory tract infection and chronic diarrhea during the first months of life in patients born to consanguineous parents should raise the suspicion for inborn errors of immunity, even in the presence of normal growth and development. |
| first_indexed | 2024-04-09T22:51:48Z |
| format | Article |
| id | doaj.art-8bcc5ba26be5425d84e53b665099de5b |
| institution | Directory Open Access Journal |
| issn | 1710-1492 |
| language | English |
| last_indexed | 2024-04-09T22:51:48Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Allergy, Asthma & Clinical Immunology |
| spelling | doaj.art-8bcc5ba26be5425d84e53b665099de5b2023-03-22T11:36:02ZengBMCAllergy, Asthma & Clinical Immunology1710-14922023-02-0119111210.1186/s13223-023-00768-5Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C geneSoodeh Ghadimi0Mahnaz Jamee1Hassan Abolhassani2Nima Parvaneh3Nima Rezaei4Samaneh Delavari5Mahnaz Sadeghi-Shabestari6Sedigheh Rafiei Tabatabaei7Alireza Fahimzad8Shahnaz Armin9Zahra Chavoshzadeh10Samin Sharafian11School of Medicine, Azad University of Medical SciencesPediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical SciencesResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical SciencesResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical SciencesResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical SciencesResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical SciencesDepartment of Immunology and Allergy, Tabriz University of Medical SciencesPediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical SciencesPediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical SciencesPediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical SciencesImmunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical SciencesImmunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical SciencesAbstract Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main characteristic of Artemis patients. Method Among 5373 registered patients, 9 Iranian patients (33.3% female) with confirmed DCLRE1C mutation were identified since 1999–2022. The demographic, clinical, immunological and genetic features were collected through retrospective investigation of medical records and using next generation sequencing. Results Seven patients were born in a consanguineous family (77.8%). The median age of onset was 6.0 (5.0–17.0) months. Severe combined immunodeficiency (SCID) was clinically detected at a median (IQR) age of 7.0 (6.0–20.5) months, following a median diagnostic delay of 2.0 (1.0–3.5) months The most typical first presentation was pneumonia (44.4%) and otitis media (3.33%), followed by BCG lymphadenitis (22.2%) and gastroenteritis (11.1%). The most prevalent manifestations were respiratory tract infections (including otitis media) (66.6%) and chronic diarrhea (66.6%). In addition, juvenile idiopathic arthritis (P5) and celiac disease and idiopathic thrombocytopenic purpura (P9) as autoimmune disorders were reported in 2 patients. All patients had reduced B CD19+ and CD4+ cell counts. IgA deficiency occurred in 77.8% of individuals. Conclusion Recurrent infections particulary respiratory tract infection and chronic diarrhea during the first months of life in patients born to consanguineous parents should raise the suspicion for inborn errors of immunity, even in the presence of normal growth and development.https://doi.org/10.1186/s13223-023-00768-5Inborn errors of immunityPrimary immunodeficiencySevere combined immunodeficiencyArtemisDCLRE1CHSCT |
| spellingShingle | Soodeh Ghadimi Mahnaz Jamee Hassan Abolhassani Nima Parvaneh Nima Rezaei Samaneh Delavari Mahnaz Sadeghi-Shabestari Sedigheh Rafiei Tabatabaei Alireza Fahimzad Shahnaz Armin Zahra Chavoshzadeh Samin Sharafian Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene Allergy, Asthma & Clinical Immunology Inborn errors of immunity Primary immunodeficiency Severe combined immunodeficiency Artemis DCLRE1C HSCT |
| title | Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene |
| title_full | Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene |
| title_fullStr | Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene |
| title_full_unstemmed | Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene |
| title_short | Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene |
| title_sort | demographic clinical immunological and molecular features of iranian national cohort of patients with defect in dclre1c gene |
| topic | Inborn errors of immunity Primary immunodeficiency Severe combined immunodeficiency Artemis DCLRE1C HSCT |
| url | https://doi.org/10.1186/s13223-023-00768-5 |
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