Immune Dysregulation and Deficiency

Question 1

Primary immunodeficiency definition

Answer 1

Inherited diseases associated with a susceptibility to infections

Question 2

PIDs can present with what 4 things

Answer 2

Infections
Autoimmunity
Allergy
Malignancy

Question 3

What disease has a really high increased risk in PID

Answer 3

Autoimmune hemolytic anemia in pediatric patients

Question 4

5 main red flags for PID

Answer 4

Infections with unusual or opportunistic pathogens (PJP)
Persistent/recurrent unusual resistance to treatment for thrush or skin rash
Structurally abnormal hair, nails, or teeth
Low serum IgG, chronic lymphpenia, neutropenia, or thrombocytopenia
Absent lymph nodes and tonsils or chronic enlargement of lymphoid tissues

Question 5

What’s a clue to defects in PRRs or PRR signalling?

Answer 5

Present with sudden severe infection (sepsis, meningitis)
No/minimal signs of inflammation
Ex: IRAK-4/MyD88 deficiemcy (lack signalling downstream of TLRs) or TLR-3 deficiency (cant see dsRNA)

Question 6

What happens if you have early complement defects?

Answer 6

C1-4
Recurrent sinopulmonary infections with encapsulated bacteria
Autoimmunity

Question 7

What happens if you have late complement defects?

Answer 7

Infections with Neisseria

Question 8

3 potential problems with neutrophils

Answer 8

Cant get to where it needs to go
Cant eat things
Cant kill things that were eating

Question 9

B cell defects lead to

Answer 9

Recurrent sinopulmonary infections with encapsulated bacteria (similar to early complement)
Persistent URTIs
Severe infections with common bugs

Question 10

T cell defect leads to

Answer 10

Recurrent opportunistic infections (PJP, CMV, candida)

Question 11

Secondary immunodeficiency

Answer 11

From things such as
Malnutrition
HIV
Malignancy
Immunosuppressive drugs or immunomodulatory drugs
Etc
Consider before performing an extensive workup