Deck 19: Immunodeficiency Diseases

Question 1

Which of the following is associated with DiGeorge syndrome?

A) Small or missing thymus
B) Missing B-cell precursors
C) Inherited as X-linked recessive
D) M spike in the gamma region

Answer 1

Small or missing thymus

Question 2

A 2-week-old girl is evaluated by a specialist because her physical appearance is abnormal.She has been hospitalized since birth.Her CD3 level is reported as 15% (normal values: 60%-80%).Her CD4 is 10% (normal values: 30%-65%).Her CD8 is 5% (normal values: 10%-40%),and her CD19 is 84% (normal values: 5%-20%).Serum immunoglobulin levels are normal.Karyotyping reveals a deletion on chromosome 22.These laboratory results support a diagnosis of:

A) Bruton's tyrosine kinase deficiency.
B) Wiskott-Aldrich syndrome.
C) DiGeorge anomaly.
D) ataxia telangiectasia.

Answer 2

DiGeorge anomaly.

Question 3

A patient's total IgG is in the normal range,but he suffers from recurrent infections with encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenza.T-cell functions are all normal.What is the most likely cause of the infections?

A) Tyrosine kinase deficiency
B) Common variable immunodeficiency
C) IgG subclass deficiency
D) Selective IgA deficiency

Answer 3

IgG subclass deficiency

Question 4

A patient with hereditary angioedema will present with swelling in the tissues and has deficiencies in which of the following?

A) C5, C6, C7, C8
B) Phagocytic cell function
C) Mature B cells
D) C1 inhibitor

Question 5

Which of the following diseases results in an acquired or secondary immunodeficiency?

A) HIV infection
B) Bruton's tyrosine kinase deficiency
C) Leukocyte adhesion deficiency
D) Wiskott-Aldrich syndrome

Question 6

A child suspected of having an inherited humoral immunodeficiency disease is given a diphtheria/tetanus vaccine.Two weeks after the immunization,his level of antibody to the specific antigens is measured.Which result is expected for this patient if he does have this deficiency?

A) Increased levels of specific antibody
B) No change in the level of specific antibody
C) An increase in IgG-specific antibody but not IgM-specific antibody
D) Increased levels of nonspecific antibody

Question 7

A male baby who has suffered from persistent Candida fungal infections and several bouts of pneumonia before the age of 6 months is found to have some developmental problems as well as low-set ears.Laboratory testing reveals an absence of T cells.What is the most likely diagnosis?

A) Selective IgA deficiency
B) Common variable immunodeficiency
C) Waldenström macroglobulinemia
D) DiGeorge syndrome

Question 8

A 6-month-old baby has suffered from recurrent bacterial infections.Flow cytometry results indicate a lack of B cells but the presence of normally functioning T cells.Which is the most likely diagnosis?

A) Severe combined immunodeficiency
B) Common variable hypogammaglobulinemia
C) DiGeorge syndrome
D) Bruton's tyrosine kinase deficiency

Question 9

Delayed-type hypersensitivity skin tests are used to screen for:

A) humoral immunodeficiencies.
B) cell-mediated immunodeficiencies.
C) phagocyte immunodeficiencies.
D) complement deficiencies.

Question 10

Which of the following statements about severe combined immunodeficiency is true?

A) It may be associated with a signal transduction defect.
B) It is accompanied by hypergammaglobulinemia.
C) Patients can be vaccinated with live virus.
D) It occurs only in males.

Question 11

Defects in oxidative burst activity can be detected using flow cytometry by labeling patient neutrophils with:

A) nitroblue tetrazolium.
B) purified protein derivative.
C) dihydrorhodamine.
D) phytohemagglutinin.

Question 12

A nitroblue tetrazolium test shows little color in cells observed under a microscope.What disease does this finding correlate with?

A) Chronic granulomatous disease
B) Ataxia telangiectasia
C) Wiskott-Aldrich syndrome
D) Transient hypogammaglobulinemia

Question 13

Decreased CD3-positive lymphocytes and a lack of responsiveness to phytohemagglutinin in the circulation are typically associated with:

A) inflammation.
B) transient hypogammaglobulinemia.
C) DiGeorge anomaly.
D) chronic granulomatous disease.

Question 14

A 9-month-old infant is seen by a physician because of a persistent skin infection.His white and red blood cell counts are normal.However,immunofixation electrophoresis indicates a low level of IgG.When the infant returns to the physician for a follow-up visit in a month,his IgG level has increased.What condition do these results indicate?

A) Severe combined immunodeficiency
B) Transient hypogammaglobulinemia
C) Common variable immunodeficiency
D) DiGeorge anomaly

Question 15

A 1-year-old boy is evaluated for a suspected immune deficiency.He has a history since birth of eczema,recurrent rashes,and diarrhea.His white blood cell count (WBC)count is 6.75/uL (normal values: 5.0-10.8 × 103 uL)with a normal differential.Platelet count is 35,000 (normal values: 150,000-350,000/uL),and the platelets are small.His IgG is 750 mg/dL (normal values: 600-1,500 mg/dL).IgM is 30 mg/dL (normal values; 75-150 mg/dL).IgA is 475 mg/dL (normal values: 50-125 mg/dL).IgE is 750 mg/dL (10-50 mg/dL).The boy's blood is typed as O-positive,and he does not have anti-A or anti-B antibodies.Flow cytometry performed on his blood shows 11% CD19 (normal values: 5%-20%)and 50% CD3 cells (normal values: 60%-80%)with a normal ratio of CD4:CD8.T-cell function tests are abnormal.This boy most likely has:

A) Bruton's tyrosine kinase deficiency.
B) Wiskott-Aldrich syndrome.
C) DiGeorge anomaly.
D) ataxia telangiectasia.

Question 16

A 7-month-old boy is seen by a specialist because of hypocalcemia,viral pneumonia,a history significant for recurrent diarrhea,and oral candidiasis.An x-ray reveals the lack of a thymic shadow.A likely diagnosis for this boy is:

A) DiGeorge anomaly.
B) Wiskott-Aldrich syndrome.
C) ataxia telangiectasia.
D) bare lymphocyte syndrome.

Question 17

A 9-month-old boy is suspected of having an immune deficiency because he had many recurrent infections with Streptococcus pneumoniae.Laboratory tests reveal a normal percentage of T cells and T-cell subsets but a lack of mature B cells and immunoglobulins.This boy most likely has:

A) Wiskott-Aldrich syndrome.
B) DiGeorge anomaly.
C) X-linked agammaglobulinemia.
D) chronic granulomatous disease.

Question 18

Which is true of selective IgA deficiency?

A) It is invariably fatal.
B) It is very rare.
C) It mainly occurs in older adults.
D) Patients may develop an anti-IgA antibody.

Question 19

Which of the following statements best describes common variable immunodeficiency?

A) Symptoms appear in infancy.
B) It is inherited as an X-linked recessive.
C) It is invariably fatal for the patient.
D) There is a deficiency of IgA, IgG, or both.

Question 20

An autosomal-recessive disease characterized by the presence of abnormally large granules primarily affecting the function of lysosomes is known as:

A) Chédiak-Higashi syndrome.
B) X-linked lymphoproliferative disease.
C) leukocyte adhesion deficiency.
D) common variable immunodeficiency.

Question 21

The most common form of severe combined immunodeficiency disease results from an X-linked mutation in the gene that codes for:

A) interleukin-2.
B) a receptor subunit involved in signaling for interleukins-2, -4, -7, and -9.
C) a common subunit involved in signaling for the B-cell receptor and T-cell receptor complexes.
D) a sequence common to CD3 and CD19.

Question 22

The buildup of toxic purine metabolites that impair B- and T-cell proliferation is the result of a mutation in the gene coding for:

A) recombinase activating gene 1 or 2.
B) JAK3 kinase.
C) mevalonate kinase.
D) adenosine deaminase.

Question 23

Which enzyme deficiency causes moderate to severe impairment of cell-mediated immunity,with little or no effect on humoral immunity?

A) Recombinase activating gene 1 or 2
B) Purine-nucleoside phosphorylase
C) Mevalonate kinase
D) Adenosine deaminase

Question 24

An autosomal-recessive form of severe combined immunodeficiency can be caused by a deficiency in:

A) JAK3.
B) Bruton's tyrosine kinase.
C) mevalonate kinase.
D) ataxia-telangiectasia kinase

Question 25

Which syndrome is characterized by defective apoptosis,leading to survival of lymphocytes that can react with self antigens?

A) Ataxia telangiectasia
B) Wiskott-Aldrich
C) Autoimmune lymphoproliferative
D) Chediak-Higashi

Question 26

The most serious impairment of opsonization and antimicrobial defense is caused by a deficiency in complement component:

A) C1q.
B) factor B.
C) C3.
D) C5.

Question 27

A defective kinase needed for DNA repair and cell cycle control leads to involuntary muscle movements and dermal capillary swelling in which syndrome?

A) Ataxia telangiectasia
B) Wiskott-Aldrich
C) Autoimmune lymphoproliferative
D) Chediak-Higashi

Question 28

Patients with recombinase activating gene 1 (RAG-1)or RAG-2 deficiencies have decreased numbers of:

A) monocytes.
B) granulocytes.
C) lymphocytes.
D)all of the above.

Question 29

A specific defect in innate immunity leading to bacterial infections could involve a deficiency in:

A) T-cell receptors.
B) B-cell receptors.
C) toll-like receptors.
D) MHC class I.

Question 30

The accumulation of immune complexes in renal glomeruli or joints (lupus-like syndromes)can be caused by a deficiency in the complement component:

A) C5.
B) MASP.
C) properdin.
D) C2.

Question 31

The most common complement component deficiency is:

A) C1q.
B) factor B.
C) MASP.
D) C2.

Question 32

Leukocyte adhesion deficiency is caused by a defect in:

A) CD3.
B) CD18.
C) CD19.
D) CD25.

Question 33

An inflammatory syndrome involving recurrent fevers is

A) ataxia telangiectasia.
B) Wiskott-Aldrich.
C) autoimmune lymphoproliferative.
D) hyper IgD.