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Flashcards in Immune deficiencies Deck (28):
1

most common primary immunodef?

selective IgA deficiency

2

common variable immunodeficiency

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

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

x-linked burtons agammaglobulinemia

4

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

IgA deficiency

5

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

common variable immunodefiency

6

DiGeorge syndrome

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

7

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

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

8

IL-12 receptor def

decreased Th1 response

9

disseminated mycobacterial infxns and low serum interferon-gamma

IL-12 deficiency

10

Hyper-IgE syndrome (jobs syndrome)

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

11

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

hyper IgE syndrome (jobs syndrome)
FATED: course face, abscesses, retained Teeth, IgE, Dermatological disease

12

chronic candida albicans infxn of skin and mucous membranes

t cell dysfunction

13

SCID causes

-defective IL-2 receptor (x linked)
-adenosine deaminase deficiency

14

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

SCID

15

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

SCID

16

Ataxia-telangiectasia

defect in ATM gene which is DNA repair

17

cerebellar defects, spider angiomas, IgA deficiency, high AFP

ataxia-telangiectasia

18

hyper-IgM syndrome

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

19

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

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

20

Wiskott-Aldrich syndrome

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

21

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

Wiskott-Aldrich syndrome

22

Leukocyte adhesion deficiency

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

23

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

leukocyte adhesion deficiency

24

Chediak-Higashi syndrome

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

25

recurrent pyogenic infxn by staph and strep, albinism, neuropathy

Chediak-higashi. also has giant granules in neutrophils

26

chronic granulomatous disease

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

27

abnormal dihydrorhodamine flow c test, susceptibility to catalase positive organisms

chronic granulomatous disease

28

X-linked Burton's agammaglobunlinemia

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