Pathophysiology

X-Linked Agammaglobulinemia mutations in the gene encoding Bruton Tyrosine Kinase located on the X Chromosome.

Medical Diagnosis

Tests
Immunoglobulin levels.
B Cell Count.
Genetic Testing.

Signs and Symptoms

Joint diseases.
Kidney inflammation.
Red blood cell breakdown.
Frequent and severe infections.

Treatment

Antibody Replacement Therapy.
Hematopoietic Stem Cell Transplantation.