Immunodeficiencies

Question 1

Bruton agammaglobulinemia is a defect in what?

Answer 1

BTK tyrosine kinase gene leading to no B cells

Question 2

Bruton agammaglobulinemia is inherited how?

Answer 2

X-Linked

Bruton -> Boys

Question 3

8 month boy come into the office for the 3rd time with hand foot and mouth disease. The mother says that she keeps him very clean and she isnt sure why he keeps getting these rashes. She also says he has recurrent ear infection. PE shows absent lymph nodes. What disorder does he have?

Answer 3

Bruton agammaglobulinemia
(also would not see B cells in peripheral smear)

Vaccines CI

Question 4

Which immunodeficiency puts you at increase risk for giardia infection?

Answer 4

selective IgA

Question 5

Presents after 2 years old with bronchiestasis, lymphoma, sinupulmonary infections. CBC shows decrease plasma cells and immunoglobulins

Answer 5

Common variable immunodeficiency

defect in B cell differentiation

Question 6

DiGeorge Syndrome presents with?

Answer 6

Tetany, recurrent fungal infections, conotruncal abnormalities (tetralogy, truncus arteriosus)

Question 7

DiGearige caused by?

Answer 7

Failure to develop the 3rd and 4th pharyngeal pouches leading to absent thymus and parathyroids
(22q11 deletion)

Question 8

Lab vaules show what in DiGeorge Syndrome?

Answer 8

Decrease T cells
Decrease PTH
Decrease Ca
(no thymic shadow)

Question 9

Disseminated mycobacterial and fungal infections that may become present after the administration of the BCG vaccine (TB). These are symptoms of what immune deficiency?

Answer 9

IL-12 receptor deficiency

Question 10

IL-12 receptor deficiency leads to a decrease in what?

Answer 10

Decrease Th1 response

Decrease in IFN-gamma

Question 11

Deficiency in Th17 cells due to STAT3 mutation leading to impaired recruitment of neutrophils to sites of infection

Answer 11

Job Syndrome

AD hyper IgE syndrome

Question 12

Job Syndrome symptoms?

Answer 12

Coarse Facies
Cold Staph Abscess
Retained Primary Teeth
Increase IgE
Dermatologic problems
Bone Fractures and minor trauma

Question 13

Job Syndrome shows what lab values?

Answer 13

Increase IgE

Increase Eosinophils

Question 14

Noninvasive Candidia albicans infections of the skin and mucous membranes with absent in vitro T cell proliferation response

Answer 14

Chronic Mucocutaneous candidiasis

Question 15

Chronic Mucocutaneous Candidiasis can result from genetic mutations in what?

Answer 15

IL17

IL17 receptors

Question 16

Failure to thrive, chronic diarrhe, thrush with recurrent viral, bacterial, fungal, and protozoal infetcions. What is the syndrome?

Answer 16

Severe Combined Immunodeficiency

Question 17

SCID defect?

Answer 17

IL-2R gamma chain (X rec)

Adenosine Deaminase Deficiency (AR)

Question 18

Absence of the thymic shadow, germinal centers, and T cells are apart of what ID?

Answer 18

SCID

Question 19

Ataxia, Spider angiomas, and IgA deficiency?

Answer 19

Ataxia-Telangiectasia

Question 20

Defect in what gene causes Ataxia-Telangiectasia? How is it inherited?

Answer 20

ATM gene (detects cell damage during replication)
AUTO REC

Question 21

ATM gene defect leads to increase risk of what cancers?

Answer 21

Lymphoma and Leukemia

Question 22

Severe pyogenic infections early in life and infections with opportunistic pathogens such as pneumocystis, Cryptosporidium, CMV. What is the defect?

Answer 22

CD40L on Th cells (class switching defect)
Hyper-IgM Syndrome
CANT MAKE GERMINAL CENTERS

Question 23

Thrombocytopenia, Eczema, and recurrent pyogenic infections?

Answer 23

Wiskott Aldrich Syndrome

Question 24

Lab values in Wiskott Aldrich Syndrome?

Answer 24

Decrease to normal IgG and IgM
Increase IgE and IgA
Fewer and smaller platelets

Question 25

Wiskott-Aldrich defect?

Answer 25

WASp gene

Leukocytes and platelets are unable to reorganize actin cytoskeleton leading to defective antigen presentation

Question 26

Delayed separation of the umbilical cord with recurrent skin and mucosal infections and absent pus. What is the defect?

Answer 26

LFA-1 (CD18) protein on phagocytes leading to impaired phagocytosis and impaired chemotaxis and migration

Question 27

What findings do you see in LAD type 1?

Answer 27

Neutrophils in the blood but not at the infection

Question 28

Defect in the LYST (lysosomal trafficking regulating gene) leading to microtubule dysfunction in phagosome-lysosome fusion; AR

Answer 28

Chediak-Higashi Syndrome

Question 29

Progressive Neurodegeneration
Lymphohistiocytosis
Albinism
Recurrent Pyogenic Infections by Staph/Strep
Peripheral neuropathy

Answer 29

Chediak-Higashi Syndrome

Question 30

defect in NADPH oxidase leading to decrease ROS and decrease Resp burst in neutrophils; X-linked

Answer 30

Chronic Granulomatous Disease

Question 31

What test are abnormal in Chronic Granulomatous Disease

Answer 31

Abnormal dihydrorhodamine test

Nitroblue tetrazolium dye reduction test fails to turn blue

Question 32

16 year old boy comes into the office complaining of severely dry skin. That patient states that over the past week his knees and elbows have had dry patches on them and sometimes they blister. The boy says he has had a hx of derm problems. He immigrated here from brazil. He is a Tanner stage 4 with small teeth, prominent forehead, and rough facial skin. lab test reveal increase immunoglobulin levels with mild eosinophilia. What is the diagnosis?

Answer 32

Job Syndrome
(AD Hyper IgE syndrome)

[decreases activation of neutrophils due to failure of IFN-gamma by helper T cells - neutrophils do not respond to chemotactic stimuli and therefore are unable to mobilize against bacteria]