Open AccessInmunodeficiencia combinada con compromiso cutáneo asociada a mutación en DOCK8
Author(s) -
Claudio Cantisano,
Héctor Díaz,
Jeanette Balbaryski,
Matías Oleastro,
Héctor Quiroz,
Eduardo Gaddi
Publication year - 2014
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2014.e147
Subject(s) - medicine , eosinophilia , immunodeficiency , immunology , immunodeficiency syndrome , etiology , immune system , pathology
Different primary immunodeficiencies present increased levels of IgE and cutaneous infections of viral etiology. We report a case of a 2 y, 8 m old boy with combined immunodeficiency, dermatitis and disseminated molluscum contagiosum. The patient presented high titers of IgE, eosinophilia and pronounced TCD8 lymphopenia. Impaired proliferation assays and abnormal antibody response to vaccination were found. Normal results of ZAP-70 protein, NK function, and HLA I levels, to test quantitatives and functional defects of cytotoxic cells, lead us to suspect a mutation in DOCK8 gene. Positive result in molecular study together with clinical and immunology features in the patient confirmed the diagnosis of this new immunodeficiency, being to the authors' knowledge the first case recorded in a paediatric hospital in our country.