Immunodeficiency disorders

Question 1

Burtons agammaglobulinemia

Answer 1

X recessive btk gene defect leading to B cell differentiation error, normal cell mediated immunity, but decreased immunoglobilin levels leading to recurrent infections after 6 months

Question 2

Hyper IgM syndrome

Answer 2

defect in CD40L on Th2 cells leading to lack of class switching and increased IgM and decreased immunoglobilins of all other types. Germinal centers not seen in lymph nodes

Question 3

Selective Ig deficiency

Answer 3

Defect in isotype switching leading to constent Fc regions and decreased IgA immune response

Question 4

CVID

Answer 4

defect in B cell maturation, increased risk of autoimmune disease, lymphoma, sinopulmonary infection, normal B cells, but vastly decreased

Question 5

Thymic aplasia

Answer 5

Part of digeorge syndrome leading to recurrent viral infections due to lack of T cells to respond to pathogens and lack of thymic shadow

Question 6

IL12 receptor deficiency

Answer 6

Decreased Th1 response leading to disseminated mycobacterial infections as well as decreased IL2 and IFN gamma

Question 7

Hyper IgE syndrome

Answer 7

All infection associated with defective macrophages and neutrophil chemotaxis

Question 8

Chronic mucocutaneous candidiasis

Answer 8

Yeast infection of skin or mucus membrane due to T cell dysfunction

Question 9

SCID

Answer 9

recurrent viral, bacterial, fungal, protozoal, ALL possible infections

Question 10

Ataxia telangiectasia

Answer 10

Gait ataxia will be present in question stem, mucus infections from IgA deficiency

Question 11

Wiskot aldrich

Answer 11

Waiter mnemonic, Immunodeficiency, thrombocytopenia, eczema, recurrent pyogenic infections

Question 12

Leukocyte adhesion deficiency type 1

Answer 12

Recurrent bacterial infection, no pus formation because neutrophils cannot diapedese

Question 13

Chronic granulomatous disease

Answer 13

Increased susceptibility to catalase positive organisms

Question 14

What is the marker for CGD

Answer 14

negative nitroblue tetrazolium blue stain

Question 15

Hyper IgE syndrome

Answer 15

Th17 cells deficient due to STAT3 mutation leading to impaired recruitment of neutrophils to infection site

Question 16

Hyper IgE syndrome manifestations

Answer 16

coarse Faces, cold staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatologic eczema

Question 17

What are the findings of thymic dysplasia?

Answer 17

Decreased T cells, PTH, Calcium, and absent thymic shadow

Question 18

What are the findings of IL12 receptor deficiency

Answer 18

Decreased IFN-y

Question 19

What are the findings of Job syndrome?

Answer 19

Increased IgE and eosinophils, decreased ifn-y

Question 20

What are the findings of ataxia telangiectasia?

Answer 20

Increased afp, decreased IgA IgG and IgE, lymphopenia and cerebellar atrophy, increased risk of lymphoma and leukemia

Question 21

What are the findings of Wiskott aldrich syndrome

Answer 21

Increased IgE and IgA but decreased IgG and IgM

Question 22

What are the findings of chediak higashi syndrome

Answer 22

Giant granules in granulocytes and platelets, pancytopenia