Immunodeficiency Dx

Question 1

(Bruton) X-Linked agammaglobulinemia

Answer 1

BTK defect –> no B cell maturation

Question 2

Chronic Granulomatous Disease

Answer 2

Defect of NADPH oxidase -> decr ROS, incr fungal and CATALASE + Bacterial infections
abnormal dihydrorhodamine test, and Nitroblue tetrazolium dye reduction test is obsolete (will NOT turn neutrophils blue)

Question 3

Chediak Higashi Syndrome

Answer 3

AR, defect in LYST gene, microtubule dysfxn in phagosome-lysosome fusion
Recurrent pyogenic infections by Staph and Strep, partial albinism, peripheral neuropathy, progressive neurodegen, infiltrative lymphohistiocytosis

Question 4

Chediak Higashi Syndrome Findings

Answer 4

Giant granules in granulocytes and platelets,
Pancytopenia,
Mild coagulation defects

Question 5

Leukocyte adhesion deficiency type 1

Answer 5

AR, defect in LFA-1 integrin (CD18) protein on phagocytes, impaired migration and chemotaxis,
Recurrent infections, absent pus formation, impaired wound healing, delayed separation of umbilial cord

Question 6

Leukocyte adhesion deficiency type 1 findings

Answer 6

Incr neutrophils but absence of neutrophils at infection sites