Introduction
There are over 200 types of primary immunodeficiencies, and they can be divided into 5 major groups:
- Antibody deficiencies (most common)
- Cellular immunity deficiencies
- Combined cellular and antibody deficiencies
- Phagocytotic and neutrophil deficiencies
- Complement deficiencies
These disorders are diagnosed by the clinical symptoms, along with:
- CBC
- Antibody counts, and electrophoresis
- Lymphocyte tests (flow-cytometry, TREC test, mitogen and vaccine antigen stimulation assays)
- Genetic and chromosomal tests
Antibody deficiencies
- Diseases affecting the B-cell lineage, including a complete lack of antibodies (X-linked agammaglobulinemia), reduced number (CVID), absence of a specific type (IgAD), or switching failure (HIgMS).
- Characterized by chronic bacterial infections (especially sinopulmonary infections).
- Treated by antibiotics (for the infections) and immune globulin replacement therapy (400mg/kg once a month).
X-linked agammaglobulinemia
X-linked disorder of Buton tyrosine kinase receptor, leading to the failure of B-cell maturation, presenting with a lack of antibodies.