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Pathology -DiGeorge Syndrome
Caused by microdeletion on chr 22q11, which results in the failure of formation of third and fourth pharyngeal pouches.
Thyroid and parathyroid: Hypoplasia of tissue.
Pathophysiology: Thymic hypoplasia resulting in T-cell insufficiency; parathyroid hypoplasia results in hypocalcernia.
Recurrent viral, fungal, and protozoa infections; tetany (owing to hypocalcemia); congenital cardiovascular malformations (including Tetralogy of Fallot or truncus arteriosus); facial deformities including cleft palate; developmental delay.
Treatments
Fetal thymus transplanted to restore T-cell immunity in situations of severe immunodeficiency; treatment of heart abnormalities; calcium supplementation.
Chronic mucocutaneous candidiasis is a T-cell failure primarily against Candida a lbicans that manifests with Candida skin and mucous membrane infections.
Caused by microdeletion on chr 22q11, which results in the failure of formation of third and fourth pharyngeal pouches.
Thyroid and parathyroid: Hypoplasia of tissue.
Pathophysiology: Thymic hypoplasia resulting in T-cell insufficiency; parathyroid hypoplasia results in hypocalcernia.
Recurrent viral, fungal, and protozoa infections; tetany (owing to hypocalcemia); congenital cardiovascular malformations (including Tetralogy of Fallot or truncus arteriosus); facial deformities including cleft palate; developmental delay.
Treatments
Fetal thymus transplanted to restore T-cell immunity in situations of severe immunodeficiency; treatment of heart abnormalities; calcium supplementation.
Chronic mucocutaneous candidiasis is a T-cell failure primarily against Candida a lbicans that manifests with Candida skin and mucous membrane infections.
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