Immunodeficiencies

Question 1

Frequent, longer-lasting/severe infxns and increased risk of opportunistic pathogens describe:

Answer 1

autoimmune deficiencies

Question 2

Deficiency in humoral immunity would result in increased infxns from ____

Answer 2

encapsulated and pyogenic bacteria

Question 3

Deficiency in CMI would result in:

Answer 3

increased infxns from IC pathogens, reactivation of latent infxns

Question 4

congenital (primary) immunodeficiency presents at:

Answer 4

present at birth and present early

Question 5

Acquired (secondary) is a deficiency as a consequence of?

Answer 5

of other co-morbidities

Question 6

Primary immunodeficiencies are categorized by problems w/:

Answer 6

• B cell
• T cell
• B and T cell (SCID)
• phagocytic
• complement

Question 7

___ occurs in myeloid defects and is associated w/ recurrent bacterial infxns due to impaired leukocyte trafficking

Answer 7

Phagocytic immunodeficiency

Question 8

What affect Tc cells and NK cells and is due to a genetic defect related to perforin-granzyme?

Answer 8

Hemophagocytic Lymphohistiocytosis

Question 9

T cells (cellular PI) physiology?

Answer 9

IC pathogens–> NK cels and Tc cells secrete IFN-g–> cytokines activate macrophages–> inability to kill pathogen–> excessive macrophage activation

Question 10

Clinical sx of Hemophagocytic Lymphohistiocytosis:

Answer 10

• increased frequency of infxn by IC pathogens
• excessive inflammation
• phagocytosis of RBC–> anemia

Question 11

Disease due to genetic defect in BTK gene so no maturation of B cells–> no abs?

Answer 11

X-linked infantile agammaglobulinemia/ Bruton’s

Question 12

Clinical features of X-linked infantile agammaglobulinemia/ Bruton’s:

Answer 12

• noticeable around 6 moa
• recurrent infxns
• early periodontal disease
• smaller secondary lymphoid organs

Question 13

Tx for X-linked infantile agammaglobulinemia/ Bruton’s:

Answer 13

• IVIG

- Bone marrow transplant

Question 14

Defect in AID enzyme which leads to no isotype switching is what disease?

Answer 14

Activation-induced (cytidine) Deaminase (AID) Hyper-IgM syndrome

Question 15

Defect in ability of B cells to mature into ab producing plasma cells and results in increased risk of pyogenic infxns and presents in teen years?

Answer 15

Common Variable Immunodeficiency

Question 16

Most common PI characterized by reduced IgA due to inability of B cells to differentiate into ab-secreting plasma cells or inability to secrete IgA?

Answer 16

Selective IgA Deficiency

Question 17

Clinical presentations of Selective IgA deficiency? tx?

Answer 17

• increased mucosal infxns; tx w/ antibiotics

Question 18

Deletion of gene on chromosome 22 that causes thymus to not develop?

Answer 18

DiGeorge Syndrome

Question 19

Clinical features of DiGeorge’s?

Answer 19

• “fish mouth”
• congenital heart defects
• only IgM

Question 20

Gene defect that involves lymphocyte toxicity which inhibits DNA synthesis and is due to a defect in the enzyme that normally breaks down purines?

Answer 20

Adenosine Deaminase def.

Question 21

Tx for ADD?

Answer 21

HSC transplant

Question 22

X-linked hyper IgM syndrome is due to a mutation of..?

Answer 22

mutation of CD40L of T cells–> necessary for isotype switching

Question 23

Mutation of X chromosome that affects WASP gene which leads to reduced CMI and humoral responses?

Answer 23

Wiskott-aldrich syndrome

Question 24

Clinical features of WAS?

Answer 24

• recurrent bacterial and viral infxns
• thrombocytopenia
• eczema

Question 25

mutation in TAP gene–> lack of mature CD8+ T cells which lead to recurrent respiratory bacterial infxns and most pts live till adulthood?

Answer 25

Class I Bare lymphocyte syndrome

Question 26

Mutation in transcription machinery–> lack of mature CD4+ T cells and presents w/ frequent GI infxns and fatal by adolescent age?

Answer 26

Class II Bare lymphocyte syndrome

Question 27

disease due to mutation in enzyme involved in oxidative burst and can be tx w/ IFN-g?

Answer 27

Chronic granulomatous disease

Question 28

syndrome due to defect in LYST protein which results in impaired phagolysosome fusion?

Answer 28

chediak-higashi syndrome

Question 29

defect in CD18 gene and results in no pus formation and delayed umbilical cord separation?

Answer 29

LAD-1

Question 30

defect in sialyl-lewis X?

Answer 30

LAD-2

Question 31

defect in pathway that increases adhesin expression on leukocytes and leads to bleeding disorder?

Answer 31

LAD-3