Immunodeficiencies

Question 1

What are the SCID immunodeficiencies

Answer 1

1. ADA
2. PNP
3. Artemis
4. RAG1/RAG2
5. Jak3

Question 2

What are the selective B cell immunodeficiencies?

Answer 2

1. BTK-agamma-globulinema
2. Agamma-globulinemia
3. IgA
4. IgG subclass
5. Hyper-IgM Syndrome
6. Transient Hyper IgM

Question 3

What are the selective T cell immunodeficiencies?

Answer 3

1. Common gamma chain
2. IL-7R alpha chain
3. BLS-II
4. MHC CLass I
5. CD3
6. DiGeorge Syndrome

Question 4

ADA

Answer 4

T- B- NK-
IgM- IgG- IgA-
Autosomal recessive
Severe opportunistic infections
No live vaccines
HSCT

Question 5

PNP

Answer 5

T- B- NK-/+
Often normal Ab panel
Autosomal recessive
Severe opportunistic infections
No live vaccines
HSCT

Question 6

Artemis

Answer 6

T- B- NK+
Ab panel: Some mutations, may be low 
Autosomal recessive radiosensitive
Severe opportunistic infections
No live vaccines
HSCT

Question 7

RAG1/RAG2

Answer 7

T- B- NK+
IgM- IgG- IgA-
Autosomal recessive
Severe opportunistic infections
No live vaccines
HSCT

Question 8

Jak3

Answer 8

T- B+ NK-
IgM+ IgG- IgA-
Autosomal recessive
Severe opportunistic infections
No live vaccines HSCT
*Causes defect in IL-2 receptor signaling

Question 9

What type of inheritance do all SCIDs have?

Answer 9

Autosomal

Question 10

Which SCID deficiency causes defective expression of pre-TCR and pre-BCR?

Answer 10

RAG1/RAG2 defeciency

Question 11

BTK agammaglobulinemia

Answer 11

T+ B- NK+
IgM- IgG- IgM-
X linked
Recurrent bacterial infections
No live vaccines 
HSCT

Question 12

Agammaglobulinemia

Answer 12

T+ B- NK+ 
IgM- IgG- IgA-
Autosomal
Recurrent bacterial infections
No live vaccines
HSCT

Question 13

IgA

Answer 13

T+ B+ NK+
IgM+ IgG+ IgA-
Autosomal- higher in males
Mostly asymptomatic
No restrictions
Symptomatic tx

Question 14

IgG Subclass

Answer 14

T+ B+ NK+
IgM+ IgG+ IgA+
Autosomal
Mostly asymptomatic
No restrictions
Symptomatic

Question 15

Hyper IgM Syndrome

Answer 15

T+ B+ NK+
IgM+ IgG- IgA-
X-linked & Autosomal
Encapsulated opportunistic infections
POLIO not recommended
Symptomatic tx

Question 16

Transient Hyper IgM

Answer 16

T+ B-/+ NK+
IgM+ IgG- IgA-
N/A 
Encapsulated opportunistic infections
POLIO no recommended
Symptomatic tx

Question 17

Common gamma chain

Answer 17

T- B+ NK-
IgM+ IgG- IgA-
X-linked
Severe opportunistic infections
No live vaccines
HSCT

Question 18

IL-7R alpha chain

Answer 18

T- B+ NK+
IgM+ IgG- IgA-
Autosomal recessive
Severe opportunistic infections
No live vaccines
HSCT

Question 19

BLS II

Answer 19

CD4 lymphepenia
hypogammaglobulinemia
Autosomal recessive
Severe opportunistic infection
No live vaccines
HSCT

Question 20

MHC Class I

Answer 20

CD8 low functional NK deficiency
IgM+ IgG+ IgA+
Autosomal recessive
Recurrent viral infections
No restrictions
Symptomatic tx

Question 21

CD3

Answer 21

T- B+ NK+
IgM+ IgG- IgA-
AUtosomal recessive
Recurrent viral infections
No live vaccines
HSCT

Question 22

DiGeorge Syndrome

Answer 22

T- B+ NK+
Usually normal Ab panel
Autosomal dominant
Recurrent viral infections
No restrictions