Immunodeficiency: B Cell Development

Brutons Agammaglobulinemia
First described in 1952 by Dr Ogden Bruton -Bruton's Agammaglobulinemia -Congenital Agammaglobulinemia

Inherited immunodeficiency male disease in which patients lack the ability to produce -Antibodies -Proteins that make up gamma globulin -Immunoglobulin fraction of blood plasma Affected males Few or no B cells and lymph nodes are very small & No tonsils and cervical lymph nodes Serum Usually no IgA, IgM, IgD, or IgE; small amounts of IgG from placenta First 6-12 months Protection by maternal IgG from placenta to fetus As IgG is exhausted Males develop recurrent pyogenic infections

Brutons Agammaglobulinemia
Infections of mucus membranes * * * * * * Middle ear (Otitis) Sinuses (Sinusitis) Eyes (Conjuctivitis) Nose (Rhinitis) Lungs (Pneumonia) Joints (Arthritis)

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Blood stream Most common infectious bacteria Streptococcus Pneumococcus Staphylococcus

DiGeorge Syndrome
Caused by a genetic mutation on 22nd chromosome that results in the deletion of a portion of it. Autosomal dominant immunodeficiency. Results in poor development of several body systems. The underlying cause is a shrunken or missing thymus gland.

Pathophysiology
The pathophysiology involves an embryologic defect in the 3rd and 4th pharyngeal pouch development from which thymus and the parathyroid glands evolve. The embryologic defect may affect not only 3rd and 4th pharyngeal pouch but also 4th, 5th and 6th branchial arches, thereby resulting in a contiguous field defect such as esophageal atresia and distal tracheoesophageal fistula (12). Disruption of pharyngeal arch development in humans underlies many of the craniofacial defects observed in the 22q11.2 deletion syndrome.