Innate Immune Defects

Question 1

What is Chronic Granulomatous Disease?

Answer 1

Disorder of phagocytic function. Phagocytes cannot undergo the respiratory burst to kill bacteria and fungi.

2/3s are X-linked

Question 2

How do patients with CGD present and what bugs cause it?

Answer 2

Present within first 5 years of life

Affects organs that are barriers:
Skin
Lungs
Liver
Lymph Nodes
Spleen
*Can have granulomas of the GU tract that leaves to urinary retention and bowel obstruction

You get deep abscesses, pneumonia, lymphadenitis, osteomyelitis, and systemic infections

*S. aureus, B. cepacia, Serratia, fungi

Question 3

How do you diagnose and treat CGD?

Answer 3

Diagnosis: nitroblue tetrazolium (NBT) test-assays phagocytic oxidase activity

Ppx: TMP/SMX and Itraconazole

*CAN receive LIVE viral vaccines, NO live bacterial vaccines (oral typhoid or BCG)

Question 4

What is Leukocyte Adhesion Deficiency (LAD)?

Answer 4

Defect in chemotaxis-WBCs can’t go where they need to

Question 5

How do pts present with LAD?

Answer 5

High WBC (20,000)
Perirectal Abscess
Indolent skin infection
Omphalitis
Delayed wound healing
Delayed umbilical separation 
Recurrent infections in the skin, mucosa, and respiratory tract

Question 6

How do you diagnosis and treat pts with LAD?

Answer 6

Diagnosis: Flow cytometry

Treat: Bone marrow and hematopoietic stem cell transplant (CURATIVE)

Question 7

What is Chediak-Higashi Syndrome, how is it inherited?

Answer 7

Autosomal Recessive

WBCs have lysosomal granules and abnormal chemotaxis

Question 8

How do pts with Chediak-Higashi Syndrome present?

Answer 8

Frequent infections-lung and skin
Easy bruisability
Oculocutaneous albinism

• VERY fair-skinned, blonde, blue-eyed kid with frequent bad skin infections
• S. aureus, Step pyogenes, and pneumococcus

Question 9

How do you diagnosis and treat pts with Chediak-Higashi Syndrome?

Answer 9

Diagnose-
Blood smear with GIANT granules in the neutrophils

Treat-
BMW transplant or die by 10 yo