{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:00:42Z","timestamp":1790413242316,"version":"4.1.0"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec>\n            <jats:title>Introduction:<\/jats:title>\n            <jats:p>Although most cases of coccidioidomycosis are subclinical or self-limited respiratory disease, 1% lead to extrathoracic dissemination and become fatal, especially in patients with an associated immunodeficiency. Up to 30%\u201350% of patients with defects in cell-mediated immunity, those with AIDS and recipients of solid-organ transplants, may develop disseminated coccidioidomycosis (DC). Within the primary immunodeficiencies, an uncommon group is caused by C-terminal <jats:italic toggle=\"yes\">NFKB2<\/jats:italic> pathogenic variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Materials and Methods:<\/jats:title>\n            <jats:p>We performed a literature search of core databases. Written informed consent for the study and for publication was obtained.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case Presentation:<\/jats:title>\n            <jats:p>A 7-year-old Mexican girl, eldest of 3 sisters, no relevant family history, and a history of recurrent upper respiratory infections and alopecia totalis was admitted with DC involving pulmonary, soft tissue, skin, bone and joint compromise. The immunodeficiency assessment showed low IgM and NK cells. We found an <jats:italic toggle=\"yes\">NFKB2<\/jats:italic> de novo heterozygous nonsense mutation of c.2611C&gt;T (p.Gln871*). She was treated with liposomal amphotericin B and itraconazole with surgical debridement. The clinical phenotype of this primary immunodeficiency is characterized by antibody deficiency and associated broncho-pulmonary predisposition to infection, but moreover also opportunistic infections and autoimmunity, most recognizable alopecia and adrenocorticotropic hormone-deficiency. After 1 year of her discharge, she continues under surveillance with antifungal therapy with itraconazole and replacement intravenous immunoglobulin until today<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>This is the first case report of DC in a patient with an <jats:italic toggle=\"yes\">NFKB2<\/jats:italic> pathogenic variant and it illustrates the importance of screening for primary immunodeficiencies in patients with disseminated fungal infections.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/inf.0000000000003333","type":"journal-article","created":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T01:21:29Z","timestamp":1631236889000},"page":"140-144","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":10,"title":["Disseminated Coccidioidomycosis as the First Presentation of a C-Terminal NFKB2 Pathogenic Variant: A Case Report and Review of the Literature"],"prefix":"10.1097","volume":"41","author":[{"given":"Samantha","family":"P\u00e9rez Cavazos","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Infectious Diseases, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo A.","family":"De la Cruz Cruz","sequence":"additional","affiliation":[{"name":"Department of Allergy and Immunology, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, M\u00e9xico."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Iv\u00e1n","family":"Castillo Bejarano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Infectious Diseases, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisse Natalie","family":"Vaquera Aparicio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Infectious Diseases, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abiel Homero","family":"Mascare\u00f1as de los Santos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Infectious Diseases, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u00e1 del Carmen","family":"Z\u00e1rate Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Allergy and Immunology, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital, Monterrey, Mexico, Monterrey, 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