Primary Immune Deficiencies

Question 1

BTK gene mutation

Answer 1

Agammaglobulinemia (Bruton’s)

Question 2

CD40 not present

Answer 2

Hyper IgM Syndrome

Question 3

Main difference between Agammaglobulinemia and CVI:

Answer 3

AGG = low B cells
CVI = normal B cells

Question 4

Low B cells, Low antibodies, Normal T cells

Answer 4

AGG

Question 5

Normal B cells, Low antibodies

Answer 5

CVI

Question 6

High IgM, low others; mostly X-linked

Answer 6

Hyper IgM Syndrome

Question 7

Low IgA, everything else normal

Answer 7

Isolated IgA Deficiency

Question 8

What is the problem with Low IgA?

Answer 8

Poor respiratory function, GI, and GU

Question 9

AGG, CVI, Isolated IgA, Hyper IgM = ?

Answer 9

B cell problem

Question 10

X-linked, mostly seen in men

Answer 10

AGG

Question 11

Failure to thrive, fungal infections, and viral infections

Answer 11

DiGeorge

Question 12

Low T cells, specifically

Answer 12

DiGeorge

Question 13

CATCH 22

H stands for?

Answer 13

H= hypocalcemia

Question 14

Low T, B, and NK cell

Answer 14

SCID

Question 15

Low receptors for IL-2,7, and 15

Answer 15

SCID

Question 16

Infant doesn’t eat well, often lack tonsils, failure to thrive

Answer 16

SCID

Question 17

DiGeorge and SCID = ?

Answer 17

T cell problem

Question 18

LAD, chronic granulomatous disease, neutropenia = ?

Answer 18

Phagocytic Deficiencies

Question 19

Persistent bacterial infections, like gingival and periodontal infections.

Answer 19

LAD (leukocyte adhesion deficiency)

Question 20

Phagocytes can’t properly digest bacteria

Answer 20

chronic granulomatous disease (CGD)

Question 21

Clinically presents with formation of granulomas.

Answer 21

chronic granulomatous disease (CGD)

Question 22

Clinically presents with gingival ulcerations

Answer 22

Neutropenia

Question 23

Recurrent sinopulmonary infections are seen in:

Answer 23

CVI, AGG, Isolated IgA Deficiency

Question 24

Most common primary immunodeficiency:

Answer 24

IgA

Question 25

Metastatic lesions get captured by what part of lymph node?

Answer 25

Cortical sinus near capsule

Question 26

Where B cells are maturing:

Answer 26

Germinal center

Question 27

Rich in T cells

Answer 27

Paracortex