Bruton's Agammaglobulinemia
- X-linked Recessive
- Defective Bruton Tyrosine Kinase
- Blocks B Cell Maturation
- Decreased Immunoglobulins of All Classes
- Bacterial Infections After Six Months
- Maternal IgG Protects Before Six Months
Selective IgA Deficiency
- Defect in Class Switching
- Decreased IgA
- Often Asymptomatic
- Increase in Atopic & Autoimmune Diseases
- Sinopulmonary Infections
- Increased Risk Giardia Lamblia Infections
- Inflammatory Bowel Disease
- Celiac Disease
- Anaphylaxis From IgA Containing Blood Products
Common Variable Immunodeficiency
- Defect in B Cell Maturation
- Decreased Plasma Cells
- Decreased Immunoglobulins
- Sinopulmonary Infections
- Increased Risk of Autoimmune Disease
- Lymphoma
Thymic Aplasia (DiGeorge Syndrome)
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Absent Thymic Shadow on CXR
IL-12 Receptor Deficiency
- IL-12 Secreted by Macrophages
- Decreased Th1 Response
- Decreased IFN Gamma
- Mycobacterial Infections
- Salmonella
Hyper IgE Syndrome
- Job Syndrome (Autosomal Dominant Hyper IgE Syndrome)
- Autosomal Dominant
- STAT3 Mutation
- Increased IgE
- Abnormal Chemotaxis
- Leonine Facies
- Cold (Non-Inflamed) Staph Aureus Abscesses
- Retained Primary Teeth
- Eczema
- Prophylactic Antibiotics
Chronic Mucocutaneous Candidiasis
- T Cell Dysfunction
- Candida Albicans
- Infections of Skin
- Infections of Mucous Membrane
- Susceptible to HPV Infections like Condyloma Acuminatum