Immunodeficiencies

Question 1

adhesion and transmigration results from interactions between… except:
a) ICAMs
b) leukocyte integrins
c) sialyl lewis bodies CD15
d) selectins

Answer 1

c

Question 2

Clinical Features

Answer 2

Early age
Hypoalbuminemia
Visceral abscesses
Recurrent sinopulmonary infection
Splenomegaly
Diarrhea
Malabsorption and growth delay

Question 3

¿What systems are affected in recurrent infections in CGD?

Answer 3

Pneumonia
Liver abscess
Skin infection
Lymphadenitis
Osteomyelitis.

Question 4

¿What type of pathogens has a pathological role in CGD?

a. Catalasa +
b. Catalasa -

Answer 4

Catalasa +

Question 5

Main pathogens in CGD

Answer 5

S. aureus
B- cepacia
S. marcescens
Nocardia spp.
Asperguillus spp.

Question 6

¿What is the pathogenesis of

Question 8

rolling is a low affinity interaction mediated by… in the endothelial surface
a) P-selectin and e-selectin
b) CD15s
c) integrins CD18/CD11b

Answer 8

a

Question 9

firm adhesion is a high affinity interaction between integrins …. in the leukocyte and …. on the endothelium

Answer 9

integrins CD18/CD11b, ICAMs

Question 10

Bruton X-Linked Agammaglobulinemia:

Function loss of _______ → block in B cell maturation causing near total abscence of B cells in the periphery

a) CD40L
b) TACI
c) BTK

Answer 10

BTK

Question 11

Consequence of BTK deficiency

a) Complete abscence of B Cells due to no proliferation, B-Cell development stops once they’re mature B Cells
b) Near complete abscence of B cells due to no proliferation, B-Cell development stops at Pre-B Cells.

Answer 11

Near complete abscence of B cells due to no proliferation, B-Cell development stops at Pre-B Cells.

Question 12

When do recurrent infections in XL-A begin and why?

Answer 12

Men affected begin recurrent infections at 6 months old → because that’s the time it takes for the antibodies transfered from the mother to the baby to stop working

Question 13

Characteristic clinical manifestations of XL-A EXCEPT:

a) Unusual sensitivity to infections by enterovirus
b) Diarrhea by G. lamblia
c) Recurrent upper and lower respiratory tract infections
d) Pulmonary Aspergillosis

Answer 13

d) Pulmonary Aspergillosis

Question 14

Treatment of XL-A

Answer 14

Life-long IV infussions of immunoglobulin

Question 15

Main mechanism of Hyper IgM syndrome

Answer 15

Block in the ability of B lymphocytes to switch from IgM to other isotopes

Question 16

Diagnostic features of Hyper IgM EXCEPT:

a) Reduced IgA, IgE, IgG
b) Low numbers of B Cells
c) Normal and/or elevated IgM

Answer 16

Low numbers of B Cells

Hyper IgM presents NORMAL number of B cells

Question 17

Deficiencies in type 1 and type 2 Hyper IgM:

a) CD40L (CD154) (1), AID (2)
b) CD18 (1), CD15 (2)
c) Common gamma chain (1) IL-1Ra (2)
d) RAG1 (1), RAG2 (2)

Answer 17

A) CD40 for type 1, AID for type 2

1 → deficiency in binding of B cells to CD40L
2 → deficiency in diferentiation because of AID deficiency

Question 18

Cell count in Common Variable Immunodeficiency (CVID) / Hypogammaglobulina

Answer 18

NORMAL B Cells because of DEFECTIVE MATURATION
→ No plasma cells → Hypogammaglobulinemia

Question 19

Diagnosis for CVID:

Answer 19

• Normal B Cells
• Low plasma cells
• Deficiency in more than 1 antibody

Question 20

Cell count in yc (IL-2Ry) deficiency

Answer 20

T-, B+, NK-

Question 21

Characteristics in yc (IL-2Ry) deficiency

Answer 21

Most frequent
Lack of T-Cells due to no maturaion, proliferation and activation
** X LINKED **
Fungal and microbial infections usully fatal

Question 22

Cell count in IL-1Ra deficiency

Answer 22

T-, B+, NK+

Question 23

Characteristics in IL-1Ra deficiency

Answer 23

Abnormal development of CD4 and CD8. NK cells are PRESERVED

Question 24

Cell count in RAG1/2 deficiency (Also called Partial Lymphopenia)

Answer 24

T-, B-, NK+

Question 25

Characteristics in RAG 1/2 deficiency

Answer 25

Deficiency in VDJ recombination in antibodies, receptors lose their ability to recognize antigens

Can cause Omenn Syndrome → rashes, eosinophilia, enlarged lymph nodes, diarrhea

Question 26

Cell count in ADA deficiency

Answer 26

T-, B-, NK- (Also called Absolute Lymphopenia)

Question 27

Characteristics of ADA deficiency

Answer 27

Mutations in Adenosine Deaminase causes accumulation of toxic purine nucleosides for B and T Cells

Question 28

Clinical manifestations of SCIV

Answer 28

Oral trush (painless, can be scraped off)