Immunodeficiencies Flashcards
1
Q
What are the SCID immunodeficiencies
A
- ADA
- PNP
- Artemis
- RAG1/RAG2
- Jak3
2
Q
What are the selective B cell immunodeficiencies?
A
- BTK-agamma-globulinema
- Agamma-globulinemia
- IgA
- IgG subclass
- Hyper-IgM Syndrome
- Transient Hyper IgM
3
Q
What are the selective T cell immunodeficiencies?
A
- Common gamma chain
- IL-7R alpha chain
- BLS-II
- MHC CLass I
- CD3
- DiGeorge Syndrome
4
Q
ADA
A
T- B- NK- IgM- IgG- IgA- Autosomal recessive Severe opportunistic infections No live vaccines HSCT
5
Q
PNP
A
T- B- NK-/+ Often normal Ab panel Autosomal recessive Severe opportunistic infections No live vaccines HSCT
6
Q
Artemis
A
T- B- NK+ Ab panel: Some mutations, may be low Autosomal recessive radiosensitive Severe opportunistic infections No live vaccines HSCT
7
Q
RAG1/RAG2
A
T- B- NK+ IgM- IgG- IgA- Autosomal recessive Severe opportunistic infections No live vaccines HSCT
8
Q
Jak3
A
T- B+ NK- IgM+ IgG- IgA- Autosomal recessive Severe opportunistic infections No live vaccines HSCT *Causes defect in IL-2 receptor signaling
9
Q
What type of inheritance do all SCIDs have?
A
Autosomal
10
Q
Which SCID deficiency causes defective expression of pre-TCR and pre-BCR?
A
RAG1/RAG2 defeciency
11
Q
BTK agammaglobulinemia
A
T+ B- NK+ IgM- IgG- IgM- X linked Recurrent bacterial infections No live vaccines HSCT
12
Q
Agammaglobulinemia
A
T+ B- NK+ IgM- IgG- IgA- Autosomal Recurrent bacterial infections No live vaccines HSCT
13
Q
IgA
A
T+ B+ NK+ IgM+ IgG+ IgA- Autosomal- higher in males Mostly asymptomatic No restrictions Symptomatic tx
14
Q
IgG Subclass
A
T+ B+ NK+ IgM+ IgG+ IgA+ Autosomal Mostly asymptomatic No restrictions Symptomatic
15
Q
Hyper IgM Syndrome
A
T+ B+ NK+ IgM+ IgG- IgA- X-linked & Autosomal Encapsulated opportunistic infections POLIO not recommended Symptomatic tx
16
Q
Transient Hyper IgM
A
T+ B-/+ NK+ IgM+ IgG- IgA- N/A Encapsulated opportunistic infections POLIO no recommended Symptomatic tx
17
Q
Common gamma chain
A
T- B+ NK- IgM+ IgG- IgA- X-linked Severe opportunistic infections No live vaccines HSCT
18
Q
IL-7R alpha chain
A
T- B+ NK+ IgM+ IgG- IgA- Autosomal recessive Severe opportunistic infections No live vaccines HSCT
19
Q
BLS II
A
CD4 lymphepenia hypogammaglobulinemia Autosomal recessive Severe opportunistic infection No live vaccines HSCT
20
Q
MHC Class I
A
CD8 low functional NK deficiency IgM+ IgG+ IgA+ Autosomal recessive Recurrent viral infections No restrictions Symptomatic tx
21
Q
CD3
A
T- B+ NK+ IgM+ IgG- IgA- AUtosomal recessive Recurrent viral infections No live vaccines HSCT
22
Q
DiGeorge Syndrome
A
T- B+ NK+ Usually normal Ab panel Autosomal dominant Recurrent viral infections No restrictions
