Immunodeficiencies

Question 1

tonsil hypoplasia
recurrent pyogenic infections with encapsulated microbes
Hep and enterovirus infections

Answer 1

Defective BTK gene

Question 2

Defective BTK gene

Answer 2

Low B cell markers with normal to increase T cell markers

Question 3

RAG gene mutations lead to

Answer 3

defective maturation of B and T cells, yielding REduced serum Ig

Question 4

ADA deficiency leads to

Answer 4

low T cells

Question 5

Most common inheritance of SCID

Answer 5

X linked recessive

Question 6

gene mutation of common gamma chain causes

Answer 6

Defective T cell maturation with increased B cells and low T cells

serum Ig is low because there is less stimulation to isotype switch

Question 7

Poor response to immunizations

recurrent pyogenic sinopulmonary infections

Answer 7

CVID

Question 8

What is the problem in CVID

Answer 8

defect in B cell maturation. Normal number of B cells, but low IG and plasma cells

Question 9

Most common primary immunodeficiency

Answer 9

Selective IgA deficiency

Question 10

STAT3 mutation

Answer 10

causes deficiency in Th17, yielding JOB syndrome or Hyper-IgE

Question 11

Clinical presentation of Hyper-IgE syndrome

Answer 11

coarse facies
eczema
abscesses
fungal infections
retention of primary teeth

Question 12

what happens if someone only has an IL-17 defect

Answer 12

chronic mucocutaneous candidiasis

Question 13

thrombocytopenia
eczema
recurrent pyogenic infections

Answer 13

mutation in the WASP gene

Question 14

consequences of WASP gene mutation

Answer 14

defective antigen presentation

Question 15

Diagnostics of Wiscott Aldrich syndrome

Answer 15

low IgM and IgG

elevated IgA and IgE

Question 16

Ataxia telangiectasia

Answer 16

defective ATM gene

Question 17

Diagnostics of ataxia telangiectasia

Answer 17

elevated AFP
Low IgA, IgE, IgG
cerebellar atrophy
lymphopenia

Question 18

progressive cerebellar ataxia
spider angiomas
writhing movements (athetosis)

Answer 18

ATM gene defect

Question 19

failed interaction between CD40 and CD40L

Answer 19

Hyper IgM

Question 20

Diagnostics Of hyper IgM

Answer 20

High IgM with minimal IgA, IgG and IgE

No germinal centers

Question 21

Autoimmune conditions
LAD
lmymphoid hypertrophy

Answer 21

mutation in Fox P3 gene (IPEX)

Question 22

delayed separation of the umbilicus
recurrent bacterial infections
lack of pus formation
impaired wound healing

Answer 22

LAD1 deficiency

Question 23

Problem with LAD type 1 deficiency

Answer 23

absence of Beta 2 integrin (LFA-1)/ CD18

Question 24

Why does a defective BTK cause a problem

Answer 24

no mature B cells means no immunoglobulins

Question 25

inheritance of BTK

Answer 25

X linked recessive

Question 26

usually presents after age 2 low plasma cells and Ig increased risk of infection

Answer 26

defect in B cell maturation | CVID

Question 27

inheritance of IL-12R deficiency

Answer 27

autosomal recessive

Question 28

Job syndrome inheritance

Answer 28

Autosomal Dominant

Question 29

Ataxia telangiectasia inheritance

Answer 29

autosomal recessive

Question 30

Hyper IgM inheritance

Answer 30

X linked recessive

Question 31

Wiscott Aldrich inheritance

Answer 31

X linked recessive

Question 32

LAD type i inheritance

Answer 32

autosomal recessive

Question 33

chediak higashi inheritance

Answer 33

autosomal recessive

Question 34

CGD inheritance

Answer 34

X linked recessive

Question 35

TGF-beta and IL-5 deficiency causes

Answer 35

selective IgA deficiency

Question 36

Defect in CD40L

Answer 36

Hyper IgM syndrome

Question 37

defective IL-7 signaling

Answer 37

X linked SCID

Question 38

RAG gene mutation

Answer 38

Autosomal recessive SCID

Question 39

IPEX inheritance

Answer 39

X linked recessive