Ch. 19: Immunodeficiency Diseases

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?

No change in the level of specific antibody

Which syndrome is characterized by defective apoptosis, leading to survival of lymphocytes that can react with self antigens? a. Autoimmune lymphoproliferative b. Wiskott-Aldrich c. Ataxia telangiectasia d. Chediak-Higashi

a. Autoimmune lymphoproliferative

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. Bruton's tyrosine kinase deficiency b. Wiskott-Aldrich syndrome c. bare lymphocyte syndrome. d. DiGeorge anomaly.

a. Bruton's tyrosine kinase deficiency

The accumulation of immune complexes in renal glomeruli or joints (lupus-like syndromes) can be caused by a deficiency in the complement component: a. C2. b. MASP. c. properdin. d. C5.

a. C2.

The most common complement component deficiency is: a. C2. b. MASP. c. C1q. d. factor B.

a. C2.

Defects in which branch of the immune system are most commonly associated with severe illness after administration of live virus vaccines? a. Cell-mediated immunity b. Humoral immunity c. Complement d. Phagocytic cells

a. Cell-mediated immunity

A 4-year-old boy presents with recurrent wound and soft-tissue infections. Which of the following assays should be considered for diagnosing his presumed PID? a. DHR reduction b. CD4 quantitation c. CD19 quantitation d. CD56 quantitation

a. DHR reduction

Which of the following statements about severe combined immunodeficiency is true? a. It may be associated with a signal transduction defect. b. Patients can be vaccinated with live virus. c. It occurs only in males. d. It is accompanied by hypergammaglobulinemia.

a. It may be associated with a signal transduction defect.

An autosomal-recessive form of severe combined immunodeficiency can be caused by a deficiency in: a. JAK3. b. mevalonate kinase. c. Bruton's tyrosine kinase. d. ataxia-telangiectasia kinase

a. JAK3.

The Cylex ImmunoKnow assay is useful in determining functional capabilities of which cell type? a. T cells b. B cells c. NK cells d. Neutrophils

a. T cells

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. Transient hypogammaglobulinemia b. Severe combined immunodeficiency c. Common variable immunodeficiency d. DiGeorge anomaly

a. Transient hypogammaglobulinemia

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. Wiskott-Aldrich syndrome. b. bare lymphocyte syndrome. c. DiGeorge anomaly. d. ataxia telangiectasia.

a. Wiskott-Aldrich syndrome.

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. adenosine deaminase. b. mevalonate kinase. c. recombinase activating gene 1 or 2. d. JAK3 kinase.

a. adenosine deaminase.

DiGeorge anomaly may be characterized by all of the following except a. autosomal recessive inheritance. b. cardiac abnormalities. c. parathyroid hypoplasia. d. decreased number of mature T cells.

a. autosomal recessive inheritance.

A specific defect in innate immunity leading to bacterial infections could involve a deficiency in: a. toll-like receptors. b. MHC class I. c. T-cell receptors. d. B-cell receptors.

a. toll-like receptors.

A defective kinase needed for DNA repair and cell cycle control leads to involuntary muscle movements and dermal capillary swelling in which syndrome? a. Chediak-Higashi b. Ataxia telangiectasia c. Wiskott-Aldrich d. Autoimmune lymphoproliferative

b. Ataxia telangiectasia

The most serious impairment of opsonization and antimicrobial defense is caused by a deficiency in complement component: a. C1q. b. C3. c. factor B. d. C5.

b. C3.

An autosomal-recessive disease characterized by the presence of abnormally large granules primarily affecting the function of lysosomes is known as: a. leukocyte adhesion deficiency. b. Chédiak-Higashi syndrome. c. common variable immunodeficiency. d. X-linked lymphoproliferative disease.

b. Chédiak-Higashi syndrome.

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. DiGeorge anomaly. c. Wiskott-Aldrich syndrome. d. ataxia telangiectasia.

b. DiGeorge anomaly.

Which of the following diseases results in an acquired or secondary immunodeficiency? a. Wiskott-Aldrich syndrome b. HIV infection c. Leukocyte adhesion deficiency d. Bruton's tyrosine kinase deficiency

b. HIV infection

Which is true of selective IgA deficiency? a. It is invariably fatal. b. Patients may develop an anti-IgA antibody. c. It is very rare. d. It mainly occurs in older adults.

b. Patients may develop an anti-IgA antibody.

Prenatal screening for SCID involves detecting a. Tregs. b. TRECS. c. THELPS. d. TCYTOS.

b. TRECS.

Which of the following statements best describes common variable immunodeficiency? a. Symptoms appear in infancy. b. There is a deficiency of IgA, IgG, or both. c. It is invariably fatal for the patient. d. It is inherited as an X-linked recessive.

b. There is a deficiency of IgA, IgG, or both.

Which of the following statements applies to Bruton's thymidine kinase (Btk) deficiency? a. It typically appears in females. b. There is a lack of circulating CD19+ B cells. c. T cells are abnormal. d. There is a lack of pre-B cells in the bone marrow.

b. There is a lack of circulating CD19+ B cells.

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. chronic granulomatous disease. b. X-linked agammaglobulinemia. c. DiGeorge anomaly. d. Wiskott-Aldrich syndrome.

b. X-linked agammaglobulinemia.

A nitroblue tetrazolium test shows little color in cells observed under a microscope. What disease does this finding correlate with? a. leukocyte adhesion deficiency b. chronic granulomatous disease c. chronic mucocutaneous candidiasis d. chediak-higashi syndrome

b. chronic granulomatous disease

Defects in oxidative burst activity can be detected using flow cytometry by labeling patient neutrophils with: a. phytohemagglutinin. b. dihydrorhodamine. c. purified protein derivative. d. nitroblue tetrazolium.

b. dihydrorhodamine.

A patient with a deficiency in complement component C7 would likely present with a. recurrent Staphylococcal infections. b. recurrent Neisserial infections. c. recurrent E coli infections. d. recurrent Nocardia infections.

b. recurrent Neisserial infections.

Which of the following statements applies to thymidine kinase (Btk) deficiency? a. it typically appears in females b. there is a lack of circulating CD19+ B cells c. t cells are abnormal d. there is a lack of pre-B cells in the bone marrow

b. there is a lack of circulating CD19+ B cells

A patient with hereditary angioedema will present with swelling in the tissues and has deficiencies in which of the following? a. Mature B cells b. C5, C6, C7, C8 c. C1 inhibitor d. Phagocytic cell function

c. C1 inhibitor

Leukocyte adhesion deficiency is caused by a defect in: a. CD19. b. CD25. c. CD18. d. CD3.

c. CD18.

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. Wiskott-Aldrich syndrome. b. bare lymphocyte syndrome. c. DiGeorge anomaly. d. ataxia telangiectasia.

c. DiGeorge anomaly.

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. DiGeorge syndrome d. Waldenström macroglobulinemia

c. DiGeorge syndrome

Recurrent, periodic fevers may be associated with increased production of which immunoglobulin? a. IgG b. IgM c. IgD d. IgE

c. IgD

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. Adenosine deaminase c. Purine-nucleoside phosphorylase d. Mevalonate kinase

c. Purine-nucleoside phosphorylase

Patients with which immunodeficiency syndrome should receive irradiated blood products to protect against the development of GVHD? a. Bruton's thymidine kinase (Btk) deficiency b. Selective IgA deficiency c. SCID d. CGD

c. SCID

T-cell subset enumeration by flow cytometry would be most useful in making the diagnosis of which disorder? a. Bruton's thymidine kinase (Btk) deficiency b. Selective IgA deficiency c. SCID d. Multiple myeloma

c. SCID

The most common form of severe combined immunodeficiency disease results from an X-linked mutation in the gene that codes for: a. a common subunit involved in signaling for the B-cell receptor and T-cell receptor complexes. b. interleukin-2. c. a receptor subunit involved in signaling for interleukins-2, -4, -7, and -9. d. a sequence common to CD3 and CD19.

c. a receptor subunit involved in signaling for interleukins-2, -4, -7, and -9.

Delayed-type hypersensitivity skin tests are used to screen for: a. phagocyte immunodeficiencies. b. complement deficiencies. c. cell-mediated immunodeficiencies. d. humoral immunodeficiencies.

c. cell-mediated immunodeficiencies.

An inflammatory syndrome involving recurrent fevers is a. Wiskott-Aldrich. b. ataxia telangiectasia. c. hyper IgD. d. autoimmune lymphoproliferative.

c. hyper IgD.

Which of the following is associated with DiGeorge syndrome? a. decrease in platelets b. defects in cell adhesion c. small or missing thymus d. copper deficiency in utero

c. small or missing thymus

Which of the following is (are) associated with ataxia-telangiectasia? a. Inherited as an autosomal recessive b. Defect in both cellular and humoral immunity c. Chromosomal breaks in lymphocytes d. All of the above

d. All of the above

What clinical manifestation would be seen in a patient with myeloperoxidase deficiency? a. Defective T-cell function b. Inability to produce IgG c. Defective NK cell function d. Defective neutrophil function

d. Defective neutrophil function

Decreased CD3-positive lymphocytes and a lack of responsiveness to phytohemagglutinin in the circulation are typically associated with: a. chronic granulomatous disease b. transient hypogammaglobulinemia c. inflammation d. DiGeorge anomaly

d. DiGeorge anomaly.

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. selective IgA deficiency c. common variable immunodeficiency d. IgG subclass deficiency

d. IgG subclass deficiency

Chronic mucocutaneous candidiasis, a PID that was previously thought to be a cell-mediated deficiency, is now classified as which type of PID? a. Autoinflammatory disorder b. Complement deficiency c. Predominantly antibody deficiency d. Innate immunity deficiency

d. Innate immunity deficiency

A FoxP3 gene mutation may lead to a deficiency of what cell type? a. T helper cells b. T cytotoxic cells c. B cells d. T regulatory cells

d. T regulatory cells

A 3-year-old boy is hospitalized because of recurrent bouts of pneumonia. Laboratory tests are run and the following findings are noted: prolonged bleeding time, decreased platelet count, increased level of serum alpha-fetoprotein, and a deficiency of naturally occurring isohemagglutinins. Based on these results, which is the most likely diagnosis? a. PNP deficiency b. Selective IgA deficiency c. SCID d. Wiskott-Aldrich syndrome

d. Wiskott-Aldrich syndrome

Patients with recombinase activating gene 1 (RAG-1) or RAG-2 deficiencies have decreased numbers of: a. granulocytes. b. all of the above. c. monocytes. d. lymphocytes.

d. lymphocytes.