Introduction:

Primary immunodeficiencies are genetic diseases. They are made up of more than 200 diseases that have recurrent infections in common. Combined immunodeficiency is characterized by recurrent episodes of sepsis of the respiratory, digestive and skin system, especially opportunistic germs. The clinical picture is highly variable and multiple clinical phenotypes are known.

Objective:

Assess the clinical and immunological manifestations of non-severe combined primary immunodeficiency through a case.

Case presentation:

8-month-old male, white infant who presented multiple respiratory and digestive infections, milk intolerance, associated with recurrent wheezing and exanthematic manifestations. He had several hospitalizations even in the intensive care service due to severe sepsis and completed treatments with penicillins, cephalosporins, sulfas, phosphocin, vancomycin and metronidazole. The immunological study revealed a marked decrease in lymphocyte subpopulations and decreased concentrations of the IgG4 subclass. The diagnosis of primary immunodeficiency of the non-severe combined type was established. The treatment used included intravenous gamma globulin and transfer factor. An evident clinical improvement was confirmed.

Conclusions:

The recurrent infections together with the results of the studies allowed to diagnose this primary immunodeficiency. Early diagnosis and timely treatment improve the patient's quality of life.

        · resumen en Español     · texto en Español     · Español ( pdf )