Primary Immune Deficiencies

Question 1

impaired cellular immunity is

Answer 1

lack of T cells and NK cells

Question 2

Impaired humoral immunity means lack of

Answer 2

antibodies

Question 3

impaired innate immunity means lack of

Answer 3

macrophages and neutrophiles

Question 4

what are the three group defects

Answer 4

Defects in lymphocyte (groups: 1-4)

Defects in phagocytes/innate immunity (groups: 5-6)

Other defects (groups: 7-10)

Question 5

SCAD ( Severe Combined Immunodeficiencies) is a defect in

Answer 5

T-cell development or function together w/h defective B and or NK cell immunity

Question 6

what is the treatment for Severe Combined Immunodeficienes

Answer 6

Bone marrow/ HSC transplant

Question 7

what is the most common type of SCID

Answer 7

X-linked

Question 8

X-linked SCID causes

Answer 8

T cells and NK cells to be absent

B cells are present but not functional

Question 9

mutation in what can also cause X-linked SCID

Answer 9

JAK3

Question 10

X-linked SCID is due to

Answer 10

mutation in the gama chain

Question 11

ADA is what type of trait

Answer 11

Autosomal Recessive

Question 12

ADA catalyzes

Answer 12

adenosine and deoxyadenosine

Question 13

What happends to the cells in ADA SCID

Answer 13

decline in B,T and NK cells

Question 14

SCID-RAG deficiency is

Answer 14

autosomal recessive on chromosome 11

Question 15

SCID-RAG deficiency is failed

Answer 15

V(D)J recombination of Ig/BCR and TCR loci

Question 16

what happends to the cells in SCID-RAG

Answer 16

B and T cells develop but arrested at pre-B and pre-T cell stage , no mature cells present

NK cell and function are normal

Question 17

what are the two syndromes of SCID-RAG

Answer 17

Omenn syndrome

Athabascan phenotype

Question 18

what are the features of omenn syndrome

Answer 18

red skin, hair loss, enlarged liver/spleen

Question 19

SCID-Class 2 MHC deficiency is

Answer 19

autosomal recessive

Question 20

the 4 subtypes of SCID-Class 2 MHC all

Answer 20

involve transcription factors

Question 21

SCID-Class 2 MHC cause

Answer 21

CD4+T cells to be dramatically reduced

Class 2 MHC are absent and non-inducible

Question 22

DiGeorge syndrome is a

Answer 22

autosomal dominant disorder on chromosome 22

Question 23

DiGeorge is a defect in

Answer 23

TBX1; transcription factor

Question 24

DiGeorge syndrome causes

Answer 24

T cells to be absent or reduced

Question 25

Complete DiGeorge syndrome results in

Answer 25

severe infection, chronic diarrhea, fatal

Question 26

non-complete DGS the

Answer 26

T cell function tends to improve with age

Question 27

what is a possible treatment for DGS

Answer 27

BM or fetal thymus transplant

Question 28

is SCID or antibody deficiency more severe

Answer 28

SCID

Question 29

(X-linked Antibody) Burton’s Agammaglobulinemia is a

Answer 29

x linked disease

Question 30

Burton’s Agammaglobulinemia is a defect in

Answer 30

BCR kinase Btk

Question 31

what does Burton’s Agammaglobulinemia cause cellulary

Answer 31

• no heavy chain rearrangement
• reduced or absent B cells/ germinal center
• low serum immunoglobulin
• T-cell function is normal

Question 32

what is the common infection in Burton’s Agammaglobulinemia

Answer 32

Neisseria

Question 33

( X-linked Antibody) Hyper IgM syndrome is a defect

Answer 33

in CD40L

Question 34

what does Hyper IgM syndrome co cellularly

Answer 34

Defective Ig switching to IgG and IgA, causes increase of IgM

Question 35

Common Variable Immunodeficiency causes

Answer 35

reduced levels of Serum Ig and impaired response to infection/vaccines

Question 36

Selective Ig isotype deficiency is more common that

Answer 36

IgG subclass deficiencies

Question 37

what type of deficiency is leukocyte adhesion deficiency

Answer 37

phagocyte deficiency

Question 38

Leukocyte adhesion deficiency is a

Answer 38

loss of CD18

Question 39

what is the result Leukocyte adhesion deficiency

Answer 39

adhesion is impaired

neutrophils cannot migrate to site of infection/injury

Question 40

Chronic Granulomatous disease causes

Answer 40

Phagocyte killing microbes is impaired

T-cell response predominateed activating granulomas

Question 41

defects in C3 cause

Defects in C5-C9 cause

Lack of C1-C4 cause

Answer 41

decrease opsonization

MAC decreases lysis of bacteria like Neisseria

impairs C3b and C4b reducing opsonization and clearance of antibody complex