Immune Deficiencies

Question 1

Course faces, abscesses, retained primary teeth, Dermatological problems

Answer 1

Hyper-IgE Syndrome (labs show increased IgE)

Question 2

Decreased Th1 response leading to disseminated mycobacterial infections and decreased IFN-gamma.

Answer 2

IL-12 Receptor Deficiency

Question 3

Defect in DNA repair enzymes

Answer 3

Ataxia-telangiectasia

Question 4

Defect in B-cell maturation. Acquired in 20’s-30’s.

Answer 4

Common variable Immunodeficiency

Question 5

Defective Adenosine deaminase deficiency

Answer 5

SCID

Question 6

Defective CD40 Ligand on Helper T Cells

Answer 6

Hyper IgM syndrome

Question 7

Defective IL-2 Receptor

Answer 7

SCID

Question 8

Defective MHC II antigens

Answer 8

SCID

Question 9

Delayed separation of umbilicus and recurrent bacterial infections…

Answer 9

Leukocyte adhesion deficiency

Question 10

Failure to produce IFN-gamma, and inability for neutrophils to response to chemotactic stimuli.

Answer 10

Hyper-IgE syndrome

Question 11

Inability to class switch, leading to increased pyogenic infections early in life. Labs show increased IgM

Answer 11

Hyper IgM Syndrome

Question 12

Increased IgE, IgA, decreased IgM

Answer 12

Wiskott Aldrich Syndrome

Question 13

Lack of Isotype switching that leads to deficiency in some type of immunoglobulins most commonly A

Answer 13

Selective Ig deficiency

Question 14

Lack of NADPH oxidase

Answer 14

Chronic Granulomatous disease

Question 15

Microtubule defect leading to recurrent pyogenic infections, partial albinism and peripheral neuropathy

Answer 15

Chediak Higashi syndrome

Question 16

Present with autoimmune disease, lymphoma, sinopulmonary infections . Labs show normal number of B cells but decreased plasma cells and immunoglobulin.

Answer 16

Common variable Immunodeficiency

Question 17

Present with Hypocalcemia, and T cell deficiency.

Answer 17

DiGeorge Syndrome

Question 18

Presents with ataxia, spider angiomas and IgA deficiencies

Answer 18

Ataxia-telangiectasia

Question 19

Presents with recurrent bactierial infections after 6 months of age. Labs will show few B cells and immunoglobulins of all classes.

Answer 19

Bruton’s Agammaglobinemia

Question 20

Recurrent infections of all types due to both B and T cell deficiency.

Answer 20

SCID

Question 21

Sinus, lung infections, milk allergies, diarrhea

Answer 21

Selective Ig Deficiency

Question 22

Susceptibility to catalase positive organisms

Answer 22

Chronic Granulomatous disease

Question 23

T-cell dysfunction

Answer 23

Chronic mucocutaneous candidiasis

Question 24

Thrombocytopenia, Infection, Eczema

Answer 24

Wiskott Aldrich Syndrome

Question 25

Thymic Aplasia

Answer 25

DiGeorge Syndrome

Question 26

X linked recessive defect in a tyrosine Kinase which prevents B cell maturation.

Answer 26

Bruton’s Agammaglobinemia

Question 27

X-linked recessive defect that leads to B and T cell depletion

Answer 27

Wiskott Aldrich Syndrome