Immunodeficiencies

Question 1

Disorder with recurrent bacterial and entoroviral infections after 6 months due to decreased maternal IgG more common in boys

Answer 1

Bruton (X-linked) agammaglobulinemia

Question 2

Findings include absent B cells in peripheral blood, decreased Ig of all classes; absent/scanty lymph nodes and tonsils

Answer 2

Bruton (X-linked) agammaglobulinemia

Question 3

Caused by a defect in BTK (tyrosine kinase gene) leading to no B cell maturation and XLR

Answer 3

Bruton (X-linked) agammaglobulinemia

Question 4

Most common primary immunodeficiency associated with celiac disease with unknown defect

Answer 4

Selective IgA deficiency

Question 5

Disease which has increased susceptibility to giardiasis and anaphylaxis after receiving blood products

Answer 5

Selective IgA deficiency

Question 6

Presents with airway and GI infections, autoimmune disese, atopy and anaphylaxis; majority of time asymptomatic

Answer 6

Selective IgA deficiency

Question 7

Common variable immunodeficiency has a defect in what cell types

Answer 7

B-cells (defect in differentiation)

Question 8

Disease that presents after age 2 and may be considerably delayed with increased risk of autoimmune disease, bronchiectasis, lymphoma, and sinopulmonary infections

Answer 8

Common variable immunodeficiency

Question 9

Disease that presents with recurrent sinopulmonary infections and lab findings of decreased plasma cells and immunoglobulins

Answer 9

Common variable immunodeficiency

Question 10

Alternative name for thymic aplasia

Answer 10

DiGeorge syndrome

Question 11

Common defect in DiGeorge syndrome

Answer 11

22q11 deletion

Question 12

22q11 deletion in DiGeorge syndrome leads to…

Answer 12

failure to develop 3rd and 4th pharyngeal pouches causing absent thymus and parathyroids

Question 13

Common findings in DiGeorge syndrome

Answer 13

Decreased T-cells, PTH and Calcium

Question 14

X-ray findings in DiGeorge syndrome

Answer 14

Absent thymic shadow

Question 15

Hypocalcemia in DiGeorge syndrome causes…

Answer 15

Tetany

Question 16

T-cell deficiency in DiGeorge syndrome leads to…

Answer 16

recurrent viral/fungal infections

Question 17

Common abnormalities in DiGeorge syndrome are…

Answer 17

conotruncal abnormalities like tetralogy of Fallot or truncus arteriosus

Question 18

Disease with decreased IFN-gamma and decreased Th1 response that is autosomal recessive

Answer 18

IL-12 receptor deficiency

Question 19

Disease that presents with disseminated mycobacterial infections due to decreased Th1 response and low IFN-gamma

Answer 19

IL-12 receptor deficiency

Question 20

Disease that presents after administration of BCG vaccine and has low IFN-gamma

Answer 20

IL-12 receptor deficiency

Question 21

Presents with thymic, parathyroid and cardiac defects

Answer 21

DiGeorge syndrome

Question 22

IL-12 receptor deficiency has what inheritance pattern

Answer 22

Autosomal recessive

Question 23

Bruton agammaglobulinemia has what inheritance pattern

Answer 23

X-linked recessive

Question 24

Disease with impaired recruitment of neutrophils to sites of infection

Answer 24

Autosomal dominant hyper-IgE syndrome

Question 25

Alternate name for autosomal dominant hyper-IgE syndrome

Answer 25

Job syndrome

Question 26

Defect in Job syndrome

Answer 26

Deficiency of Th17 cells

Question 27

Cause of Th17 cell deficiency in Job syndrome

Answer 27

STAT3 mutation

Question 28

What Ig is increased in Job syndrome

Answer 28

IgE

Question 29

Lab findings in someone with coarse facies, retained primary teeth and cold staphylococcal abscess

Answer 29

Decreased IFN-gamma, increased IgE and eosinophils

Question 30

Common presentation for Job syndrome

Answer 30

FATED: coarse Facies, cold staphylococcal Abscess, retained primary Teeth, increased IgE, Dermatologic problems

Question 31

Job syndrome has what inheritance pattern

Answer 31

Autosomal dominant

Question 32

Defect in chronic mucocutaneous candidiasis

Answer 32

T-cell dysfunction

Question 33

Patient with absent cutaneous reaction to Candida antigens will have a defect in what cell type

Answer 33

T-cell

Question 34

Patient with chronic skin and mucous membrane infections with T-cell dysfunction has what disease

Answer 34

Chronic mucocutaneous candidiasis

Question 35

Patient presents with failure to thrive, chronic diarrhea and thrus with defective IL-2R gamma chain has what condition

Answer 35

Severe combined immunodeficiency

Question 36

What is the most common defect in SCID

Answer 36

Defective IL-2R gamma chain

Question 37

What is the inheritance patter in SCID

Answer 37

X-linked recessive if IL-2R | Autosomal recessive if adenosine deaminase deficieny

Question 38

What cells are defective in SCID

Answer 38

T-cells fail to develop leading to B-cell dysfunction

Question 39

Flow cytometry findings in SCID

Answer 39

T-cells

Question 40

Xray findings in SCID

Answer 40

Absence of thymic shadow

Question 41

Patient with absent thymic shadow on chest xray, absent germinal centers and no T-cells on flow cytometry is at risk for what type of infections

Answer 41

Recurrent viral, bacterial, fungal, protozoal infections and opportunistic infections like pneumocystis

Question 42

What is the treatment for SCID

Answer 42

Avoid live vaccines, give antimicrobial prophylaxis and IVIG

Question 43

What is the curative treatment for SCID

Answer 43

Bone marrow transplant

Question 44

Patient with recurrent viral, bacterial, fungal, protozoal infections and opportunistic infections like pneumocystis has what disease

Answer 44

SCID

Question 45

Defect in ataxia-telangiectasia

Answer 45

ATM gene

Question 46

ATM gene defect in ataxia-telangiectasia leads to...

Answer 46

failure to repair DNA double stranded breaks leading to cell cycle arrest

Question 47

Triad of ataxia-telangiectasia

Answer 47

Ataxia, spider angiomas, IgA deficiency

Question 48

What are the AFP levels in ataxia-telangiectasia

Answer 48

Increased AFP levels

Question 49

Ataxia-telangiectasia increases the risk of developing...

Answer 49

lymphoma and leukemia

Question 50

Common findings in ataxia-telangiectasia include...

Answer 50

Increased AFP levels, decreased IgA, IgG and IgE, lymphopenia and cerebellar atrophy

Question 51

Hyper-IgM syndrome defect

Answer 51

Defective CD40L on Th cells

Question 52

Defective CD40L on Th cells in hyper-IgM syndrome defect leads to...

Answer 52

class switching defect

Question 53

Hyper-IgM syndrome defect inheritance pattern

Answer 53

X-linked recessive

Question 54

Individual with opportunistic Pneumocystis or Cryptosporidium infection or CMV has what type of defect

Answer 54

Defective CD40L on Th cells seen in hyper-IgM syndrome

Question 55

Common findings in X-linked recessive disorder with defective CD40L on Th cells

Answer 55

Normal or increased IgM, markedly decreased IgG, IgA, and IgE with failure to make germinal centers

Question 56

Defect in Wiskott-Aldrich syndrome

Answer 56

WASp gene mutation

Question 57

Wiskott-Aldrich syndrome inheritance pattern

Answer 57

X-linked recessive

Question 58

Thrombocytopenia, eczema, and recurrent pyogenic infections are seen in...

Answer 58

Wiskott-Aldrich syndrome

Question 59

Wiskott-Aldrich syndrome increases the risk of...

Answer 59

autoimmune disease and malignancy

Question 60

WASp gene defect in Wiskott-Aldrich syndrome leads to...

Answer 60

leukocytes and platelets unable to reorganize actin filament leading to defective antigen presentation

Question 61

Common findings in Wiskott-Aldrich syndrome

Answer 61

Decreased to normal IgG, IgM Increased IgE, IgA Fewer and smaller platelets

Question 62

Leukocyte adhesion deficiency (type I) inheritance pattern

Answer 62

Autosomal recessive

Question 63

Leukocyte adhesion deficiency (type I) defect

Answer 63

Defective LFA-1 integrin (CD18) protein on phagocytes

Question 64

Defective LFA-1 integrin (CD18) protein on phagocytes in Leukocyte adhesion deficiency (type I) leads to...

Answer 64

impaired chemotaxis and migration of phagocytes

Question 65

Recurrent skin and mucosal bacterial infections with absent pus in infant with delayed separation of umbilical cord has a defect in...

Answer 65

LFA-1 integrin (CD18) protein on phagocyte

Question 66

Leukocyte adhesion deficiency (type I) presentation

Answer 66

Recurrent skin and mucosal bacterial infections with absent pus in infant with delayed separation of umbilical cord and impaired wound healing

Question 67

Common finding at infection site in baby with delayed separation of umbilical cord

Answer 67

Absence of neutrophils at infection site

Question 68

Chediak-Higashi syndrome inheritance pattern

Answer 68

Autosomal recessive

Question 69

Chediak-Higashi syndrome defect

Answer 69

Lysosomal trafficking regulator gene (LYST) defect

Question 70

Lysosomal trafficking regulator gene (LYST) defect in Chediak-Higashi syndrome leads to...

Answer 70

microtubule dysfunction in phagosome-lysosome fusion

Question 71

Failure to form phagolysosomes in patient with recurrent pyogenic staph and strep infections has what disease

Answer 71

Chediak-Higashi syndrome

Question 72

Chediak-Higashi syndrome common findings

Answer 72

Recurrent pyogenic staph and strep infections, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytis and neutropenia

Question 73

Individual with giant granules in granulocytes and platelets, pancytopenia and mild coagulation defects with failure to form phagolysosomes has a defect in...

Answer 73

lysosomal trafficking regulator gene (LYST)

Question 74

Chronic granulomatous disease (CGD) defect

Answer 74

NADPH oxidase defect

Question 75

NADPH oxidase defect in CGD leads to...

Answer 75

decreased ROS and respiratory burst in neutrophils

Question 76

CGD most common inheritance pattern

Answer 76

X-linked recessive

Question 77

CGD patients are susceptible to what type of organisms

Answer 77

Catalase positive

Question 78

Significance of catalase positive organisms in CGD

Answer 78

Catalase positive organisms can use H2O2 and prevent formation of ROS

Question 79

CGD flow cytometry test findings

Answer 79

Abnormal dihydrorhodamine test with decreased green fluorescence

Question 80

Nitroblue tetrazolium dye reduction test results...

Answer 80

Remains colorless - positive for CGD | Turns blue - normal NADPH oxidase

Question 81

Catalase positive organisms

Answer 81

S aureus, P cepacia, S marcescens, Nocardia, Apergillus, Candida

Question 82

MPO deficiency defect

Answer 82

Defective conversion of H2O2 to Hypochloride

Question 83

MPO deficiency NBT results

Answer 83

Normal NBT

Question 84

MPO deficieny increases risk of what infections

Answer 84

Candida infections