FA quick T cell disordrrs 03-29 (2)

Question 1

4 T cell disorders?

Answer 1

Thymic aplasia;
IL-12 receptor deficiency;
Autosomal dominant hyper-IgE syndrome (Job syndrome);
Chronic mucocutaneous candidiasis

Question 2

22q11 microdeletion; failure

to develop 3rd and 4th pharyngeal pouches?

Answer 2

Thymic aplasia

Question 3

absent thymus and parathyroids?

Answer 3

Thymic aplasia

Question 4

DiGeorge syndrome—thymic, parathyroid, cardiac defects?

Answer 4

Thymic aplasia

Question 5

Velocardiofacial syndrome—

palate, facial, cardiac defects

Answer 5

Thymic aplasia

Question 6

Cardiac defects (conotruncal abnormalities [eg, tetralogy of Fallot, truncus arteriosus]), Abnormal facies, Thymic hypoplasia, Cleft palate?

Answer 6

Thymic aplasia

Question 7

T-cell deficiency (recurrent viral/ fungal infections)?

Answer 7

Thymic aplasia

Question 8

Hypocalcemia 2° to parathyroid aplasiaŽtetany

Answer 8

Thymic aplasia

Question 9

Thymic shadow absent on

CXR

Answer 9

Thymic aplasia

Question 10

decr. T cells, decr. PTH, decr. Ca2+

Answer 10

Thymic aplasia

Question 11

decr. Th1 response; autosomal recessive

Answer 11

IL-12 receptor deficiency

Question 12

autosomal recessive

Answer 12

IL-12 receptor deficiency

Question 13

Disseminated mycobacterial and fungal infections?

Answer 13

IL-12 receptor deficiency

Question 14

may present after administration of BCG vaccine?

Answer 14

IL-12 receptor deficiency

Question 15

decr. IFN-γ

Answer 15

IL-12 receptor deficiency

Question 16

Most common cause of

Mendelian susceptibility to mycobacterial diseases (MSMD)?

Answer 16

IL-12 receptor deficiency

Question 17

Deficiency of Th17 cells due to STAT3 mutation?

Answer 17

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 18

impaired recruitment of neutrophils to sites of infection?

Answer 18

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 19

Deficiency of Th17 cells due to STAT3 mutation –> impaired recruitment of neutrophils to sites of infection

Answer 19

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 20

Cold (noninflamed) staphylococcal Abscesses, retained Baby teeth, Coarse facies, Dermatologic problems (eczema), incr. IgE, bone Fractures from minor trauma

Answer 20

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 21

incr. IgE

incr. eosinophils

Answer 21

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 22

Cold (noninflamed) staphylococcal Abscesses?

Answer 22

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 23

retained Baby teeth?

Answer 23

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 24

Coarse facies?

Answer 24

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 25

Dermatologic problems (eczema), incr. IgE?

Answer 25

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 26

bone Fractures from minor trauma?

Answer 26

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Question 27

T-cell dysfunction?

Answer 27

Chronic mucocutaneous candidiasis

Question 28

Impaired cell-mediated | immunity against Candida sp?

Answer 28

Chronic mucocutaneous candidiasis

Question 29

Classic form caused by defects in AIRE?

Answer 29

Chronic mucocutaneous candidiasis

Question 30

Persistent noninvasive Candida albicans infections of skin and mucous membranes?

Answer 30

Chronic mucocutaneous candidiasis

Question 31

Absent in vitro T-cell proliferation in response to Candida antigens?

Answer 31

Chronic mucocutaneous candidiasis

Question 32

Absent cutaneous reaction to Candida antigens?

Answer 32

Chronic mucocutaneous candidiasis