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Case Report


Necrosis of Nasal Cartilage due to Mucormycosis in a Patient With Severe Congenital Neutropenia due to HAX1 Deficiency


A Fahimzad,1 Z Chavoshzadeh,1 H Abdollahpour,2 C Klein,2 N Rezaei3

1 Pediatric Infections Research Center (PIRC), Mofi d Children Hospital, Shaheed Beheshti University of Sciences, Tehran, Iran
2 Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany
3 Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran

J Investig Allergol Clin Immunol 2008; Vol. 18(6): 469-472



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.

Key words: Fungal infection. HAX1. Mucormycosis. Severe congenital neutropenia.