A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation
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LETTER TO EDITOR
A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation Juan Carlos Aldave & Enrique Cachay & Luis Núñez & Ausberto Chunga & Sergio Murillo & Sophie Cypowyj & Jacinta Bustamante & Anne Puel & Jean-Laurent Casanova & Armando Koo
Received: 2 May 2013 / Accepted: 1 October 2013 / Published online: 9 October 2013 # Springer Science+Business Media New York 2013
We report the case of a 1-year-old Peruvian girl who displayed recurrent infections by Candida albicans and pyogenic bacteria from the neonatal period onward. Our patient was born to non-consanguineous Mestizo parents. There was no family history suggestive of Primary Immunodeficiencies (PIDs). The patient suffered from Candida albicans infections since 3 days of age, predominantly affecting body skin, oral cavity and oropharynx, which required systemic antifungal therapy. Without antifungals the patient developed dysphonia and persistent cough, suggestive of laryngeal and respiratory tract J. C. Aldave (*) : E. Cachay : L. Núñez : A. Koo Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Calle Manuel Candamo 257, Lince, Lima, Peru e-mail: [email protected] A. Chunga Histocompatibility Laboratory, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru S. Murillo Hematology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru S. Cypowyj : J.
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