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Pediatrics Genetic and genetic disorders c5e6adb2

A child having delayed separaion of umbilical cord with leukocytosis with Downs syndrome and recurrent infections. Diagnosis ?

A
Leucocyte Adhesion deficiency
B
Neonatal sepsis
C
Histiocytosis-X
D
All of above
High-Yield Explanation
Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency. The clinical picture is characterized by marked leukocytosis and localized bacterial infections that are difficult to detect until they have progressed to an extensive level secondary to lack of leukocyte recruitment at the site of infection. Thus the infections in patients with leukocyte adhesion deficiency act similarly as those observed in patients with neutropenia. See the images below. Reference: GHAI Essential pediatrics, 8th edition

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