X-Linked Agammaglobulinemia: Report of 4 Cases of Mexican Patients At Civil Hospital of Guadalajara Dr Juan I. Menchaca

Background:   The X-linked agammaglobulinemia is a primary immunodeficiency featured by hypogammaglobulinemia, recurrent infections and low levels of circulating B Lymphocytes, caused by a mutation of the tyrosine kinase of Bruton (Btk). The aim of this work is to present clinical and laboratory evidence of four patients with high suspect to bear a Bruton's agammaglobulinemia.

Methods: We review medical records of four patients bearing a humoral immunodeficiency probably Bruton's agammaglobulinemia.

Results:   Patient 1: 20 years old with IgG of 197 mg/dl, IgM 14.6 mg/dl, IgA 10 mg/dl, IgE 0 UI/ml and B cells 0,02%. He has a brother with hypogammaglobulinemia, 2 maternal uncles  died with history of recurrent infections. Patient 2: 13 years old, with IgG 33.3 mg/dl, IgM 6.07 mg/dl, IgA 6.07 mg/dl, IgE 0.5 UI/ml and B cells 0.03%.  Six maternal uncles and 2 aunts have died at early age. Patient 3: 6 years old, IgG, IgM, IgA and IgE not detectable and B cells 0.4%. One brother died as new born. Patient 4:  6 years old, with IgG 33 mg/dl, IgM 98.7 mg/dl, IgA 6.67 mg/dl and B cells 2%. The IgM maintained elevated until the age of 4 years old, afterwards was undetectable. He had 2 maternal uncles that had died at early age.

All of our patients have presented infections before 6 months of age such as otitis, pansinusitis, septic arthritis, mastoiditis, pneumonia. Two of them with pleural efusion and patient 4 with bronchiectasis and atelectasis.

Conclusions: Because of the clinical findings of our 4 patients, immunoglobulin levels, the low percentage of B cells, the early death of family members and all of them arer males, we consider that the molecular defect in our patients could be at Btk gene and the diagnosis most probable would be Bruton's agammaglobulinemia.