Immunodeficiencies

Question 1

Bruton’s agammaglobulinemia: inheritance

Answer 1

x-linked recessive

Question 2

Bruton’s agammaglobulinemia: lab findings (4)

Answer 2

Normal pro-B
low maturation
low number of B cells
low Ig of all classes

Question 3

Bruton’s agammaglobulinemia: presentation

Answer 3

recurrent bacterial infections after 6 months

Question 4

Bruton’s agammaglobulinemia: defect

Answer 4

defective BTK (tyrosine kinase)

Question 5

Selective Ig deficiency: defect

Answer 5

Defect in isotype switching leads to low level of a specific Ig class

Question 6

Hyper-IgM syndrome: defect

Answer 6

defective CD40L (T cells) impairs class switching

Question 7

Hyper-IgM syndrome: presentation

Answer 7

severe pyogenic infections early in life

Question 8

Hyper-IgM syndrome: labs (2)

Answer 8

High IgM

very low other classes

Question 9

Selective Ig deficiency: presentation (3)

Answer 9

sinus and lung infections
milk allergies and diarrhea
Anaphylaxis when exposed to IgA

Question 10

Selective Ig deficiency: labs

Answer 10

IgA deficiency most common

Question 11

Common variable immunodeficiency (CVID): defect

Answer 11

Poor b-cell differentiation

Question 12

Common variable immunodeficiency (CVID): presentation (2)

Answer 12

acquired in 20s-30s

increased risk of autoimmune disease, lymphoma, sinopulmonary infections

Question 13

Common variable immunodeficiency (CVID): labs (3)

Answer 13

Normal number of B cells
low plasma cells
low immunoglobulin

Question 14

Thymic aplasia (DiGeorge’s): defect

Answer 14

22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches

Question 15

Thymic aplasia (DiGeorge’s): presentation (3)

Answer 15

Tetany
recurrent viral/fungal infections
congenital heart/great vessel defects

Question 16

Thymic aplasia (DiGeorge’s): labs (4)

Answer 16

Low T cells
Low PTH
Low Ca
No thymic shadow

Question 17

IL-12 receptor deficiency: defect

Answer 17

low Th1 response

Question 18

IL-12 receptor deficiency: presentation

Answer 18

Disseminated mycobacterial infections

Question 19

IL-12 receptor deficiency: labs

Answer 19

low IFN-gamma

Question 20

Hyper-IgE syndrome (Job’s): defect

Answer 20

Th cells fail to produce IFN-gamma, inability of neutrophils to respond to chemotaxis

Question 21

Hyper-IgE syndrome (Job’s): presentation (5)

Answer 21

coarse Facies
cold staphylococcal Abscesses
retained primary Teeth
increased igE
Dermatologic problems (eczema)

Question 22

Hyper-IgE syndrome (Job’s): labs

Answer 22

high IgE (if you don’t answer this one correctly, slap yourself in the face. hard)

Question 23

Chronic mucocutaneous candidiasis: defect

Answer 23

T cell dysfunction

Question 24

Chronic mucocutaneous candidiasis: presentation

Answer 24

Candida Albicans infections of skin and mucous membranes

Question 25

SCID: defect (3 types)

Answer 25

Defective IL-2 receptor (most common)

Question 26

SCID: presentation

Answer 26

Recurrent infections of any kind

Question 27

SCID: treatment

Answer 27

BMT

Question 28

SCID: labs (2)

Answer 28

``` low IL-2r (low T-cell activation) high adenine (toxic to B and T cells) ```

Question 29

Ataxia-telengiectasia: defect

Answer 29

defect in DNA repair enzymes

Question 30

Ataxia-telengiectasia: presentation (3)

Answer 30

Cerebellar defects Spider angiomas IgA deficiency

Question 31

Ataxia-telengiectasia: labs

Answer 31

IgA deficiency

Question 32

Wiskott-Aldrich syndrome: defect

Answer 32

x-linked recessive, progressive deletion of B and T cells

Question 33

Wiskott-Aldrich syndrome: presentation (3)

Answer 33

Thrombocytopenic purpura Infections Eczema

Question 34

Wiskott-Aldrich syndrome: labs (3)

Answer 34

high IgE high IgA high IgM

Question 35

Leukocyte adhesion deficiency (type 1): defect

Answer 35

Defect in CD18 protein (LFA-1 integrin) on phagocytes

Question 36

Leukocyte adhesion deficiency (type 1): presentation (3)

Answer 36

Recurrent bacterial infections Absent pus formation Delayed separation of umbilicus

Question 37

Leukocyte adhesion deficiency (type 1): labs

Answer 37

Neutrophilia

Question 38

Chediak-Higashi syndrome:defect

Answer 38

autosomal recessive defect in microtubular function with low phagocytosis

Question 39

Chediak-Higashi syndrome: presentation (3)

Answer 39

Recurrent staphy/streptococci pyogenic infections Partial albinism Peripheral neuropathy

Question 40

Chronic granulomatous disease: defect

Answer 40

Lack of NADPH oxidase leads to less reactive ;oxygen species, absent respiratory burst in neutrophils

Question 41

Chronic granulomatous disease: presentation

Answer 41

susceptibility to catalase-positive organisms (S aureus, E coli, Aspergillus)

Question 42

Chronic granulomatous disease: labs

Answer 42

Negative Nitroblue tetrazolium dye reduction test