IMMUNODEFICIENCIES / IMMUNOLOGIC DISORDERS

B-CELL: Is a rare genetic disorder that affects the body's ability to fight infection. Absence of BTK gene (Bruton's tyrosine kinase)

• Bruton's X-Linked Agammaglobulinemia
• Common Variable Immunodeficiency (CVI)
• Transient Hypogammaglobulinemia
• X-linked Hyper IgM Syndrome

B-CELL: Failure of mature B cells to become plasma cells. Unknown mechanism (idiopathic). No antibody production. Congenital presentation; IgA and IgG def. (+) B-cell.

• Bruton's X-Linked Agammaglobulinemia
• Common Variable Immunodeficiency (CVI)
• Transient Hypogammaglobulinemia
• X-linked Hyper IgM Syndrome

B-CELL: Failure of B cells to produce antibodies due to delayed maturation of thymus. Also referred to as Pediatric Hypogammaglobinemia

• Bruton's X-Linked Agammaglobulinemia
• Common Variable Immunodeficiency (CVI)
• Transient Hypogammaglobulinemia
• X-linked Hyper IgM Syndrome

B-CELL: Increased levels of IgM. Absence of CD40 ligand on T helper cell

• Bruton's X-Linked Agammaglobulinemia
• Common Variable Immunodeficiency (CVI)
• Transient Hypogammaglobulinemia
• X-linked Hyper IgM Syndrome

B-CELL: Impaired of IL-2 production. Hyperactive Th2. Prone to allergic reactions.

• Hyper IgE
• IgA Deficiency
• Isolated IgG Subclass Deficiency

B-CELL: Most common primary immunodeficiency. Failure of B cells to become IgA-producing plasma cells, Recurrent gastrointestinal and respiratory infection.

• Hyper IgE
• IgA Deficiency
• Isolated IgG Subclass Deficiency

B-CELL: Person lacking a specific IgG subclass -> vulnerable to certain kinds infections but not others.

• Hyper IgE
• IgA Deficiency
• Isolated IgG Subclass Deficiency

IgG1, IgG3

• Protein antigen
• Carbohydrate antigens

IgG2

• Protein antigen
• Carbohydrate antigens

T-CELL: Absence of chromosome 22q. Impaired embryonic development of 3rd and 4th pharyngeal pouch which will give rise to: Hard palate, Part of aorta, Parathyroid gland, Thymus.

• DiGeorge Syndrome/Di George Anomaly
• Purine-nucleoside phosphorylase deficiency (PNP deficiency)