Immune deficiencies

Question 1

most common primary immunodef?

Answer 1

selective IgA deficiency

Question 2

common variable immunodeficiency

Answer 2

defect in b cell maturation. has multiple causes. (generally aquired)

Question 3

Recurrent bacterial infxn after 6 months. normal pro-b cells but no maturation, lower overall number of b cells and low immunoglobulins of all classes

Answer 3

x-linked burtons agammaglobulinemia

Question 4

sinopulmonary infxn, gi infections, autoimmune disease, false positive Beta-HCG tests. generally unsymptomatic condition

Answer 4

IgA deficiency

Question 5

normal number of b cells but low plasma cells, recurrent infxns

Answer 5

common variable immunodefiency

Question 6

DiGeorge syndrome

Answer 6

22q11 deletion. 3/4 branchial pouch don’t develop. no thymus or parathyroids

Question 7

tetany, recurrent viral/fungal infxn, congenital heart and great vessel defects, absent thymic shaddow

Answer 7

Digeorge syndrome (tetany due to hypocalcemia which distinguishes from SCID)

Question 8

IL-12 receptor def

Answer 8

decreased Th1 response

Question 9

disseminated mycobacterial infxns and low serum interferon-gamma

Answer 9

IL-12 deficiency

Question 10

Hyper-IgE syndrome (jobs syndrome)

Answer 10

Th1 cells don’t produces IFN-gamma so neutrophils don’t respond to chemotactic stimuli

Question 11

coarse face, cold noninflammed staphylococcal abscesses, retain primary teeth, Dermatological problems (eczema)

Answer 11

hyper IgE syndrome (jobs syndrome)

FATED: course face, abscesses, retained Teeth, IgE, Dermatological disease

Question 12

chronic candida albicans infxn of skin and mucous membranes

Answer 12

t cell dysfunction

Question 13

SCID causes

Answer 13

• defective IL-2 receptor (x linked)

- adenosine deaminase deficiency

Question 14

low T-cell recombinant excision circles, no thymic shaddow, no germinal centers in lymph nodes

Answer 14

SCID

Question 15

failure to thrive, chronic diarrhea, thrush, recurrent viral/bacterial/fungal/protozoal, abscent thymic shadow, germ center missing

Answer 15

SCID

Question 16

Ataxia-telangiectasia

Answer 16

defect in ATM gene which is DNA repair

Question 17

cerebellar defects, spider angiomas, IgA deficiency, high AFP

Answer 17

ataxia-telangiectasia

Question 18

hyper-IgM syndrome

Answer 18

defective CD40L on helper T cells so no class switching take place of B cells

Question 19

high IgM and low everything else. pyogenic infxns that are really bad

Answer 19

hyper IgM syndrome. no class switching due to lack of CD40L on CD4 Ts

Question 20

Wiskott-Aldrich syndrome

Answer 20

xlinked WAS gene. T cells can’t reoganize actin cytoskeleton

Question 21

Thrombocytopenic purpura, infections, eczema, IgE/A high, IgM low

Answer 21

Wiskott-Aldrich syndrome

Question 22

Leukocyte adhesion deficiency

Answer 22

defect in LFA-1 integrin (CD18) on phagocytes so they can’t adhere

Question 23

recurrent bacterial infxn, absent pus formation, delayed umbilical cord to separate

Answer 23

leukocyte adhesion deficiency

Question 24

Chediak-Higashi syndrome

Answer 24

recessive. lysosomal trafficking defect (LYST). microtubule dysfunction leads to inability of phagosome-lysosome to fuse

Question 25

recurrent pyogenic infxn by staph and strep, albinism, neuropathy

Answer 25

Chediak-higashi. also has giant granules in neutrophils

Question 26

chronic granulomatous disease

Answer 26

lack of NADPH oxidase so can't make ROS like superoxide for respirartory burst in neutrophils

Question 27

abnormal dihydrorhodamine flow c test, susceptibility to catalase positive organisms

Answer 27

chronic granulomatous disease

Question 28

X-linked Burton's agammaglobunlinemia

Answer 28

x-linked recessive (boys) defect in BTK (Y kinase) no B cell maturation