Congenital erythroid aplasia. including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth delay are sometimes observed. DBA patients have a modest risk of developing leukemia and other malignancies.
Wiskott Aldrich Syndrome
Wiskott-Aldrich syndrome is an immune deficiency disorder. Characteristics of Wiskott-Aldrich syndrome include eczema, infections, small platelet size, and a low platelet count. It is X-linked recessive.
Which blood product replaces clotting factors?
Which blood product replaces fibrinogen?
What is serum sickness?
type III hypersensitivity reaction. Do not need prior exposure to Ag. Often due to antibiotics. 2/2 immune complex formation - precipitate in joints, kidney, vessel wall. Fever, rash, arthralgia, muscle aches. Skin - itching, red, urticarial, angioedema. symptoms last 7-10 days then self resolve. Can use steroids if severe
Leukocyte adhesion defect type 1
delayd umbilical cord separation. Baseline leukocytosis b/c lack CD18 that allows cells to leave circulation and fight infection. Suffer recurrent necrotizing infections - skin, gut, lungs. Leave cigarette paper dcrs . Dx with CD18 check by flow cytometry