Primary Immune Deficiencies Bloods

Question 1

Absent neutrophil count, normal leukocyte adhesion markers, absent oxidative killing, no pus

Answer 1

Kostmann

Question 2

Increased neutrophil count, absent leukocyte adhesion markers, normal oxidative killing, no pus formation

Answer 2

LAD

Question 3

Normal neutrophil count, normal leukocyte adhesion markers, abnormal oxidative killing, pus present

Answer 3

Chronic granulomatous disease

Question 4

Negative NBT/ DHR

Answer 4

Chronic granulomatous disease

Question 5

CD4 low, CD8 low, B cell low, IgM low, IgG low, IgA low

Answer 5

SCID- Reticular dysgenesis/ ADA deficiency (just T = X linked)

Question 6

CD4 low, CD8 low, B cell normal, IgM normal, IgG low, IgA low

+Cleft palate

Answer 6

DiGeorges

Question 7

CD4 low, CD8 normal, B cell normal, IgM normal, IgG low, IgA low

Answer 7

Bare lymphocyte syndrome T2

Question 8

CD4 normal, CD8 normal, B cell low, IgM low, IgG low, IgA low

Answer 8

Brutons

Question 9

CD4 normal, CD8 normal, B cell normal, IgM high, IgG low, IgA low

Answer 9

HyperIgM

Question 10

CD4 normal, CD8 normal, B cell normal, IgM normal, IgG normal, IgA low

Answer 10

Selective IgA deficiency

Question 11

CD4 normal, CD8 normal, B cell normal, IgM low, IgG low, IgA low

Answer 11

CVID

Question 12

B cell normal, IgM low, IgG and IgA normal

Answer 12

Wiskott Aldrich syndrome