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Flashcards in Pathology3 Deck (16):
0

X-linked tyrosine kinase defect blocks B cell maturation seen in boys

Bruton's agammaglobulinemia

1

Thymic and parathyroid aplasia due to failure of 3rd and 4th pharyngeal arch development

DiGeorge syndrome

2

Often X linked with defective B cell and T cell activation

Severe Combined Immune Deficiency

3

X linked defect with progressive depletion of B and T cells

Wiskott-Aldrich syndrome

4

Autosomal recessive defect in phagocytosis

Chediak-Higaski syndrome

5

Glucose-6-Phosphate deficiency accumulates in the liver

Von Gierke

6

Muscle phophorylase deficiency accumulates in the muscles

McArdle

7

Maltase deficiency affects the heart pump

Pompe

8

Gangliosides accumulation in the brain; rapidly fatal
Cherry red macula
severe mental retardation

Tay-Sachs

9

Glucocerebrosides accumulate in the liver and spleen- most common

Gaucher

10

Sphingomyelin accumulation in the liver and brain

Niemann Pick

11

Deficiency in homogentistic acid, urine turns black on standing, dark damaged cartilage- ochronosis

Alkaptonuria- amino acid disorder

12

Neoplasia caused by the Epstein Barr virus and is more common in children. Characterized by a starry-sky appearance.

Burkitt's lymphoma

13

Neoplasia characterized by Reed-Sternburg cells. Common in adults

Hodkin's lymphoma

14

Neoplasia is an adrenal medulla tumor which secretes excess norepinehrine.
It is characterized by paroxysms of palpitations, perspiration and pressure headaches

Pheochromocytoma

15

Neoplasia which is a mixed tumor of the kidneys
Most common renal tumor in children

Wilm's tumor