Combined immunodeficiency associated DOCK8 mutations

Results Case report: P.G.O, 9 years old, product of healthy and not consanguinity parents. At age 6 days started a recurrent intestinal bleeding, hypoactivity and fever and was hospitalized with a diagnosis of enterocolitis and sepsis by E.coli. Five days later presented cellulitis and infectious vasculitis in members with decrease of C3. Over the years presented several episodes of pneumonia, otitis, gastroenteritis, and diagnosis of atopic dermatitis. At age 3, he started skin lesions in several regions with diagnosis of poxvirus. At same time, he started warts in fingers in the hands and foot. At age 5 years, he presented atypical pneumonia and bronchiolitis obliterans with areas of atelectasis and bronchiectasis in chest tomography. Two months later, he presented malignant otitis externa and mastoiditis. Four months later, he presented abscess in the right upper limb after vacinattion to Pneumococcus. He started the followup in immunodeficiency out-patient clinic and the lab evaluation showed at age 4 years a normal levels of IgA,IgM and IgG, high levels of IgE (>10.000 Ui/dL), pneumococcal antibodies deficiency and low number of T cells (CD4 and CD8). The hypothesis of combined immunodeficiency associated with DOCK 8 mutations was done, because the presence of very high IgE levels, dermatological changes such as atopic dermatitis, molluscum contagiosum and warts in addiction to viral infeccions difficult control). The patient has received prophylactic cotrimoxazol since 5 years old with a significant reduction infeccions, without need new hospitalizations. He showed a normal thrive until now.