Leukocyte adhesion deficiency (type I) - Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive. Some features are late separation (>30 days) of the umbilical cord, absent pus, and dysfunctional neutrophils resulting in recurrent skin and mucosal bacterial infections. Lab findings are increased neutrophils in blood and the absence of neutrophils at infection sites (A Gram stain of one of the lesions shows many gram-positive cocci in clusters but no leukocytes. Laboratory studies show no abnormalities except for a leukocyte count of 30,0000/mm^3) resulting in impaired wound healing.
Hyperimmunogloblin M syndrome - Most commonly due to a defective CD40L on Th cells leading to a class switching defect; X-linked recessive. Some features are severe pyogenic infections early in life; opportunistic infections namely with Pneumocystis, Cryptosporidium, and CMV. Normal or increased IgM but greatly decreased IgG, IgA, and IgE. Patients also have underdeveloped or absent germinal centers.
submitted by โshak360(19)
CD-related immunodeficiencies
Leukocyte adhesion deficiency (type I) - Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive. Some features are late separation (>30 days) of the umbilical cord, absent pus, and dysfunctional neutrophils resulting in recurrent skin and mucosal bacterial infections. Lab findings are increased neutrophils in blood and the absence of neutrophils at infection sites (
A Gram stain of one of the lesions shows many gram-positive cocci in clusters but no leukocytes. Laboratory studies show no abnormalities except for a leukocyte count of 30,0000/mm^3) resulting in impaired wound healing.Hyperimmunogloblin M syndrome - Most commonly due to a defective CD40L on Th cells leading to a class switching defect; X-linked recessive. Some features are severe pyogenic infections early in life; opportunistic infections namely with Pneumocystis, Cryptosporidium, and CMV. Normal or increased IgM but greatly decreased IgG, IgA, and IgE. Patients also have underdeveloped or absent germinal centers.