immune deficiency

Question 1

X-linked bruton

Answer 1

defect in the BTK tyrosine kinase. there are no B cells. there are recurrent bacterial and enteroviral infections after the first 6 months. absent B cells, decreased Ig of all classes. no lmph nodes or tonsils

Question 2

selective IgA deficiency

Answer 2

most common def. most are asympt. can see Gi and airway infections. autoimmune disease. atrophy, anaphylaxis to any IgA containing product. decreased IgA with normal IgG and IgM

Question 3

common variable

Answer 3

defect in b cell differentiation. can be acquried in the 20-30s. increase risk of autoimmune, bronchiectasis, lmphoma, sinopulmonary infections, decreased plasma cells., decreased immunoglobulins.

Question 4

thymic aplasia,

Answer 4

22q11 del. failure of the 3rd and 4th pharyngeal pouches. absent thymus and parathyroid. tetany due to low calcium. recurrent viral and fungal infections. decreased t cells and PTH decreased calcium. absent thymic shadow

Question 5

IL-12R deficiency

Answer 5

decreased th1 response, AR. disseminated mycobacterial, salmonella and fungal infections. decreased IFN-gamma.chronic mucocutaneous candidiasis

Question 6

hyper IgE syndrome AD

Answer 6

defective Th17 cells due to STAT 3 mutation. impaired recruitment of neutrophils to the site of infection. coarse facies. non-inflamed (cold) staph abcesses, retained primary teeth. increased IgE. eczema. IgE increased and IFN-gamma decreased.

Question 7

Hyper IgM XR

Answer 7

deficiency of CD40 on t cells causes class switching defects. severe pyogenic infections opportunistic infections with peumocystis, cryptosporidium, CMV. there is increased IgM, decreased IgG, IgA, IgE.

Question 8

SCID

Answer 8

defective IL-2R or adenosine deaminase. failure to thrive, dirrhea, recurrent bacterial vrial and fungal infections, protozoan. need bone marrow. absence of a thymic shadow, t cell excision circles, absence of germinal centers and t cells. NO LIVE VACCINES

Question 9

ataxia telangiectasia

Answer 9

defective ATM. failure to repair double strand breaks, cell cycle arrest. there is a triad of cerebellar defects, decreased IgA, and spider angiomas. lymphopenia and cerebellar atrophy

Question 10

wiskott aldrich

Answer 10

WAS gene. triad of thrombocytopenia, eczema, and recurrent infection. increased risk of autoimmune and malignancy. decreased IgG and IgM. t cell motility issue with cytoskeleton.

Question 11

lymphcyte adhesion deficiency

Answer 11

CD18 defective. impaired migration and chemotaxis. AR> recurrent bacterial and skin infections. absent pus formation impaired wound healing and impairement of the umbilical cord to fall off.
increased neutrophilia but no recruitment.

Question 12

chediak-higashi

Answer 12

defect in lysosomal trafficking regulator. LYST. microtubule dysfunction in phagosome-lysosome fusion. recurrent staph andstrep infections AR. partial albinism. giant granules in granulocytes and platelets. pancytopenia. coagulation defects.

Question 13

CGD

Answer 13

decrease in NADPH oxidase. decreased ROS, increased susceptibility to catalase positive organisms abnormal dihydrorodamine test and nitroblue tetrazolamine test is negative.