immune deficiencies

Question 1

no B cell maturation, incr incidence in boys, recurrent bacterial and enteroviral infections after 6 months. what is absent?

Answer 1

x-linked (bruton) agammaglobinemia; CD19+ B cell is absent

Question 2

x-linked (bruton) agammaglobinemia d/t defect in?

Answer 2

BTK, a tyr kinase

Question 3

most common primary immunodeficiency

Answer 3

selective IgA deficiency

Question 4

generally healthy, with recurrent sinus and lung infxns, atopy, asthma

Answer 4

selective IgA deficiency

Question 5

major risk assc’d with selective IgA deficiency

Answer 5

anaphylaxis to Ig-A containing blood products

Question 6

22q11 deletion

Answer 6

thymic aplasia (digeorge)

Question 7

tetany, recurrent viral/fungal infxns

Answer 7

thymic aplasia (digeorge)

Question 8

which type of conotruncal abnormalities are assc’c with digeorge syndrome?

Answer 8

tetralogy of fallot or truncus arteriosus

Question 9

noninvasive candida infxns of skin and mucous membranes

Answer 9

chronic mucoutaneous candidiasis

Question 10

chronic mucoutaneous candidiasis is d/t

Answer 10

t cell dysfxn

Question 11

hyper-IgM syndrome d/t defective____

Answer 11

CD40L on Th cells

Question 12

most common mode of inheritance of hyper-IgM syndrome

Answer 12

x-linked recessive

Question 13

incr susceptibility to mycobacterial and fungal infxns

Answer 13

IL-12 receptor deficiency

Question 14

adenosine deaminase deficiency

Answer 14

SCID

Question 15

chronic mucocutaneous candidiasis, recurrent RSV, VZV, HSV, measles, flue, parainfluenza, PCP, chronic diarrhea, FTT

Answer 15

SCID

Question 16

absent thymic shadow in what dz (2)

Answer 16

1. digeorge syndrome

2. SCID

Question 17

immunodeficiency, thrombocytopenic purpura, eczema, recurrent infxns

Answer 17

wiskott aldrich syndrome

Question 18

which Ig level is decr in wiskott aldrich syndrome

Answer 18

IgM, IgG

Question 19

x-linked immunodeficiencies (4)

Answer 19

1. wiskott aldrich
2. bruton agammaglobulinemia
3. chronic granulomatous dz
4. hyper IgM syndrome

Question 20

cerebellar ataxia and poor smooth pursuit of moving target, IgA deficiency, telangiectasias on face

Answer 20

ataxia-telangiectasia

Question 21

ppl with ataxia-telangiectasia have an incr risk of?

Answer 21

lymphoma & acute leukemias

Question 22

elevated AFP assc’d with which immune deficiency

Answer 22

ataxia-telangiectasia

Question 23

lack of nadph oxidase activity

Answer 23

chronic granulomatous dz

Question 24

chronic granulomatous dz characterized by incr susceptbility to what types of pathogens?

Answer 24

catalase+

Question 25

nitroblue tetrazolium dye reduction test negative

Answer 25

chronic granulomatous dz

Question 26

defective LYST gene, giant cytoplasmic granules in PMN

Answer 26

chediak higashi dz

Question 27

recurrent staph and strep infxns, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis

Answer 27

chediak higashi dz

Question 28

which dz is characterized by impaired neutrophil chemotaxis

Answer 28

hyper-IgE syndrome

Question 29

eczema, recurrent cold abscesses, course facial features with frontal bossing and thick doughy skin, 2 rows of teeth

Answer 29

hyper-IgE syndrome

Question 30

abnormal integrins on phagocytes, defect in CD18

Answer 30

leukocyte adhesion deficiency

Question 31

delayed separation of umbilical cord, absent pus formation in wounds

Answer 31

leukocyte adhesion deficiency