Most common phagocyte immunodeficiencies

Question 1

What are most common phagocyte immunodeficiencies?

Answer 1

• Chediak-Higashi
• Leukocyte Adhesion Deficiency
• CGD

Question 2

What is Chediak-Higashi syndrome?

Answer 2

It involves defective lysomal-phagosomal fusion, due to LYST gene mutation and microtuble dysfunction; get pancytopenia and PLAIN sx:

• –Progessive neurodegeneration
• –Lymphohistiocytosis (overactive and increased lymphocytes and macrophages)
• –Albinism
• –Infections
• –Peripheral neuropathy

Question 3

What is Leukocyte adhesion deficiency?

Answer 3

It involves defective LAF-1 integrin/CD18 on phagocytes; sx:

• –Neutrophilia (in blood)
• –Recurrent skin and mucosal infections
• –*No pus
• –*Delayed umbilical cord seperations

Question 4

What is Chronic granulomatous disease?

Answer 4

It involves a neutrophil NADPH oxidase def.; increased risk of infection with Catalse positive organism (Aspergillus, Staph aureus) b/c of decreased ability to produce NADPH oxidase and ROS to perform respiratory burst

—Dx: Nitroblue tetrazolium reduction test will NOT turn blue (like it should)