(14) Inherited Innate Immunodeficiencies (individual parts of diseases)

Question 1

Why do Chronic Granulomatous Disease and G6PD present in much the same way?
- what’s the differential?

Answer 1

Hemolysis Occurs more in G6PD deficiency because G6PD is needed to make NADPH for glutathione reductase which is a very essential enzyme to RBCs to prevent heme agglutination

Question 2

A Child is born healthy but in infancy experiences skin or bones infection with bacteria Serratia marcenscens. What disease should be suspected?
- other pathogens possible?

Answer 2

Suspect Chronic Granulomatous Disease

• **E. SNACKS**
• E. coli
• S. aureus
• Nocardia
• Aspergillus
• Candida spp.
• Klebsiella
• Serratia marcescens

Question 3

What are neutropenias?

Answer 3

Diseases characterized by low numbers of granulocytes

- Usually Defined as neutrophil count less than 500 cells/ul

Question 4

What are they 3 most common types of neutropenias?

Answer 4

1. Severe Congenital Neutropenia
2. Cyclic Neutropenia
3. Benign Chronic Neutropenia

Question 5

What are 4 primary immuodeficiencies that have high incidence of neutropenia?

Answer 5

• X-linked Hyper-IgM syndrome
• X-linked agammaglobulinemia (XLA)
• WHIM Syndrome
• Griselli Syndrome

Question 6

A patient has a complement deficiency leading to reduced C3b deposition.
- what do you expect to be the effects of this?

Answer 6

• WAY more susceptible to Bacterial infections ESPECIALLY THOSE IN CAPSULES

Question 7

Deficiencies in what leads to greater Susceptibility to encapsulated bacteria?

Answer 7

• C3

- Or Factor I, because C3 convertases don’t get shut down and all C3 gets depleted

Question 8

What deficiency can lead to greater susceptibility to encapsulated bacteria and niesseria?

Answer 8

Factor D - no C3 alternative C3 or C5 convertase can be formed

Question 9

Lack of what complement proteins can cause nephritis and vascularitis?

Answer 9

Lack of C1, C2, and C4

• Small immune complexes are usually disposed of by oposinization of the antibodies allowing them to be phagocytosed

Question 10

A defect in what gene would lead to low neutrophil levels every 2-4 weeks?

Answer 10

• Cyclic Neutropenia

Question 11

A defect in the LYST gene leads to what disease?

Answer 11

Chediak-Higashi Syndrome

Question 12

A genetic deficiency in G-CSF or G-CSFR is typically associated with what Inheritance pattern?

Answer 12

• Autosomal Recessive

**This is Kostmann Syndrome aka Severe Congenital Neutropenia

Question 13

What bugs are asplenic people especially susceptible to?

Answer 13

• H. influenzae
• Strep. Pneumo.
• Niesseira Spp.

Question 14

What viruses, bacteria and fungi are people with NK cell deficiencies particularly susceptible to?

Answer 14

Viruses:

• VARICELLA ZOSTER VIRUS (chicken pox/shingles)
• Herpesviruses
• Cytomegaloviruses
• Epstein-Barr Virus

*Obvious reasons for this - NK cells are especially important during early (MIC) and late responses (No MIC, IgG1 and IgG3 for ADCC)

Bacteria:
- MYCOBACTERIUM AVIUM/INTRACEULLARE)

*Macrophages in these infections probably rely on NK cells to see their MIC and kill them

Fungi:
- TRICHOPHYTON

Question 15

You have a patient come in with Deep set eyes, Incontinential Pigmenti, and conical teeth. What disease should you suspect?
- what causes this disease?

Answer 15

NEMO Deficiency

• NFkB is not produced and you need it for proper development and to upregulation of cytokine expression in response to PRR / TLR stimulation

Question 16

You note that a baby has delayed detachment and sloughing of the umbilical cord. What disease should you suspect?

Answer 16

• Leukocyte Adhesion Deficiency

- Defective CD18 integrin

Question 17

MORE CARDS NEED TO BE ADDED TO THIS DECK

Answer 17

MORE CARDS NEED TO BE ADDED TO THIS DECK