title: Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency.
abstract: Severe congenital neutropenia (SCN) is a primary immunodeficiency disease characterized by early onset of severe bacterial infection and persistent severe neutropenia. We describe an SCN patient with a history of recurrent infections. The clinical course was complicated by necrosis of the nasal cartilage due to mucormycosis. Molecular studies revealed a homozygous germline HAX1 mutation. Fungal infections may lead to serious complications in immunodeficient patients. Recurrent and severe infections should alert physicians to possible immunodeficiency disease. Early diagnosis and appropriate treatment are the most important keys to preventing irreversible organ damage.
authors.affiliation: Pediatric Infections Research Center, Mofid Children Hospital, Shaheed Beheshti University of Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Fahimzad
authors.forename: Z
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.forename: H
authors.initials: H
authors.lastname: Abdollahpour
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002648:Child; D005260:Female; D006801:Humans; D009091:Mucormycosis / Q000150:complications / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D055171:Nasal Cartilages / Q000276:immunology / Q000382:microbiology / Q000473:pathology*; D009336:Necrosis; D009503:Neutropenia / Q000235:genetics / Q000276:immunology / Q000382:microbiology / Q000473:pathology*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D011506:Proteins