Infant aged three and a half months, of Maghrebi origin, correctly vaccinated for his age, with no medical history of interest. Pregnancy controlled in Spain, gestational period passed without incident.
Family history: healthy, non-consanguineous parents; two sisters aged three and ten years, healthy, and five brothers who died before the age of one year, all of whom died of a complicated respiratory condition.
The infant had adequate weight gain and no infections since birth.
He was referred to his referral hospital because of a family history of male infants who had died prematurely.
A blood test was performed at our centre that showed decreased absolute and subclass immunoglobulin levels: IgG 153 mg/dl, IgA 23 mg/dl, IgM 17 mg/dl and IgE 10.8 mg/dl. Flow cytometry for the study of lymphocyte subpopulations showed a percentage and absolute decrease in B lymphocytes (1.5%, 109/µL), with a relative predominance of T lymphocytes, confirming the diagnosis of humoral immunodeficiency, suspected Bruton's disease, which was confirmed by genetic study.
Treatment was started with monthly intravenous gamma globulin (400 mg/kg) and complete vaccination (including pneumococcal), with satisfactory evolution.
She is currently six years old, undergoing replacement treatment with monthly gamma globulin and has not presented any complications or intercurrent processes, presenting a good staturoponder curve.