Primary Immunodeficiencies

Question 1

ADA - Adenosine Deaminase

Answer 1

T- B- NK-

IgM- IgG- IgA-

SCID - diarrhea, fungal infx, skin/mouth/throat disease

Question 2

PNP - Purine nucleotide

Answer 2

T- B- NK -/+

Normal Abs

SCID - diarrhea, fungal infx, skin/mouth/throat disease

Question 3

Artemis

Answer 3

T- B- NK+

Abs can be low

SCID - diarrhea, fungal infx, skin/mouth/throat disease

Question 4

RAG1/RAG2

Answer 4

T- B- NK+

IgM- IgG- IgA-

SCID - diarrhea, fungal infx, skin/mouth/throat disease

Question 5

Jak3

Answer 5

T- B+ NK-

IgM+ IgG- IgA-

SCID - diarrhea, fungal infx, skin/mouth/throat disease

Question 6

BTK agammaglobulinemia

Answer 6

T+ B- NK+

IgM- IgG- IgA-

X-LINKED - recurrent bacterial infx

Question 7

Agammaglobulinemia

Answer 7

T+ B- NK+

IgM- IgG- IgA-

Recurrent bacterial infx

Question 8

IgA

Answer 8

T+ B+ NK+

IgM+ IgG+ IgA-

Not X-linked, but occurs more often in males. Can cause anaphylaxis in response to anti-IgA IgG

Question 9

IgG subclass

Answer 9

T+ B+ NK+

IgM+ IgG+ IgA+

Asymptomatic

Question 10

Hyper IgM-syndrome

Answer 10

T+ B+ NK+

IgM+ IgG- IgA-

X-Linked - CD40L
Autosomal - CD40
Encapsulated opportunistic infx

Question 11

Transient hyper-IGM

Answer 11

T+ B-/+ NK+

IgM+ IgG- IgA-

Encapsulated opportunistic infx

Question 12

Common gamma chain

Answer 12

T- B+ NK-

IgM+ IgG- IgA-

X-linked, severe opportunistic infx

Question 13

IL-7R alpha chain

Answer 13

T- B+ NK+

IgM+ IgG- IgA-

Severe opportunistic infx

Question 14

BLS II

Answer 14

CD4 lymphopenia

hypogammaglobulinemia

Severe opportunisitic infx

Question 15

MHC class I

Answer 15

low CD8, no fx NK

IgM+ IgG+ IgA+

Recurrent viral infx

Question 16

CD3

Answer 16

T- B+ NK+

IgM+ IgG- IgA-

Recurrent viral infx

Question 17

DiGeorge Syndrome

Answer 17

T- B+ NK+

Normal Abs

Autosomal DOMINANT, recurrent viral infx