{
    "abstract": "Childhood-onset eosinophilic granulomatosis with polyangiitis (cEGPA) is a rare type of systemic autoimmune disorder. Variants in the NFKB2 gene can manifest as common variable immunodeficiency or combined immunodeficiency, often accompanied by autoimmunity and ectodermal dysplasia. Here, we report a case of a Chinese patient who carries NFKB2 variants that coexist with cEGPA, a novel combination which, to our knowledge, has not been previously published.\nWe reported a 9-year and 10-month-old girl who presented with cough, wheezing, dyspnea, hypereosinophilia, and vasculitis. Notably, she had significant bilateral pulmonary interstitial lesions. We performed metagenomic next-generation sequencing (mNGS), bronchoscopy and immunological analysis. She was considered to have refractory cEGPA after six months of corticosteroid and immunosuppressive treatment. Tapering off corticosteroids posed a challenge, and multiple immunosuppressive agents were ineffective. Our patient suffered from recurrent fever, wheezing, dyspnea and perianal abscess, along with life-threatening infections, including pneumocystis jirovecii pneumonia (PJP) and severe coronavirus disease 2019 (COVID-19) pneumonia during the pandemic. Her cytokines and inflammatory markers showed a profound collapse. She developed significant hypoxemia, which necessitated mechanical ventilation. Primary immunodeficiency gene panel testing revealed a novel de novo variant in NFKB2 (c.2578\u2009+\u20092 dup) that was classified as pathogenic. Despite treatment with antibacterial, antiviral, and antifungal agents, biologics, and plasma exchange, she ultimately succumbed to respiratory failure.\nThis case report establishes a novel link between NFKB2 variants and EGPA, particularly in the context of the COVID-19 pandemic. This study expands the spectrum of NFKB2 variants and vividly illustrates the complex interrelationships among autoimmunity, infection, and immunodeficiency.",
    "authors": [
        {
            "affiliation": "Department of Pediatric Pulmonary and Immunology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, 610041, Sichuan, China.\nKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, Sichuan, China.",
            "firstname": "Li",
            "initials": "L",
            "lastname": "Lin"
        },
        {
            "affiliation": "Department of Pediatric Pulmonary and Immunology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, 610041, Sichuan, China.\nKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, Sichuan, China.",
            "firstname": "Xin",
            "initials": "X",
            "lastname": "Peng"
        },
        {
            "affiliation": "Department of Pediatric Pulmonary and Immunology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, 610041, Sichuan, China.\nKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, Sichuan, China.",
            "firstname": "Lina",
            "initials": "L",
            "lastname": "Chen"
        },
        {
            "affiliation": "Department of Pediatric Pulmonary and Immunology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, 610041, Sichuan, China.\nKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, Sichuan, China.",
            "firstname": "Liqun",
            "initials": "L",
            "lastname": "Dong"
        },
        {
            "affiliation": "Department of Pediatric Pulmonary and Immunology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, 610041, Sichuan, China. linca_zhong@163.com.\nKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, Sichuan, China. linca_zhong@163.com.",
            "firstname": "Lin",
            "initials": "L",
            "lastname": "Zhong"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025. The Author(s).",
    "doi": "10.1186/s12969-025-01086-3",
    "journal": "Pediatric rheumatology online journal",
    "keywords": [
        "NFKB2",
        "COVID-19",
        "Childhood-onset eosinophilic granulomatosis with polyangiitis",
        "Churg-Strauss syndrome",
        "EGPA",
        "Inborn errors of immunity"
    ],
    "methods": null,
    "publication_date": "2025-04-01",
    "pubmed_id": "40165201\n37161084\n23637321\n36283646\n30404114\n29766394\n36404638\n32668296\n29466544\n24140114\n37938781\n38990428\n37322808\n33107914\n31837445\n35110334\n30317003\n29943913\n18639318\n27026726\n34750115\n36396790\n36339665\n16078322\n32471903\n32759256\n30599236\n37191755\n32813180\n30500415\n30941118\n30927119\n27749582\n29278687\n33369776\n28778864\n33176080\n30941333\n39579251\n33007327\n27744359\n34032896\n36927642\n34235880\n33609588\n36389175",
    "results": null,
    "title": "Case report: novel NFKB2 variant associated with pediatric eosinophilic granulomatosis with polyangiitis (EGPA) in the COVID-19 pandemic.",
    "xml": "<Element 'PubmedArticle' at 0x788505e50400>"
}