Immunodeficiency Disorders: Causes, Diagnosis, and Management

Question 1

Which of the following is NOT a common cause of primary immunodeficiency disorders?

Accepted Answer

Acquired immunodeficiency syndrome (AIDS)

Answer

Inherited genetic mutations

Answer

Congenital viral infections

Answer

DiGeorge syndrome

Question 2

Which of the following laboratory tests is primarily used for diagnosing X-linked agammaglobulinemia?

Accepted Answer

Serum immunoglobulin levels

Answer

Flow cytometry

Answer

Genetic testing

Answer

Bone marrow biopsy

Question 3

In the context of treating immunodeficiency disorders, which complication is unique to stem cell transplantation?

Accepted Answer

Graft-versus-host disease

Answer

Hemorrhagic cystitis

Answer

Cataracts

Question 4

Which of the following is NOT a common mechanism by which underlying diseases can lead to secondary immunodeficiency disorders?

Accepted Answer

Enhancement of immune function

Answer

Impaired production of cytokines

Answer

Altered maturation or function of immune cells

Answer

Destruction of immune cells

Question 5

X-linked agammaglobulinemia is caused by a mutation in which gene?

Accepted Answer

BTK gene

Answer

RAG1 gene

Answer

IL-2RG gene

Question 6

Which of the following is a common cause of primary immunodeficiency disorders?

Accepted Answer

Inborn genetic defects

Answer

Acquired infections

Answer

Autoimmune diseases

Answer

Malnutrition

Question 7

What is the primary treatment for CVID?

Accepted Answer

Intravenous immunoglobulin (IVIG)

Answer

Antibiotics

Answer

Stem cell transplant

Answer

Gene therapy

Question 8

What is the main function of the complement system in the immune response?

Accepted Answer

To opsonize pathogens for phagocytosis

Answer

To directly kill pathogens

Answer

To activate T and B lymphocytes

Answer

To regulate the inflammatory response

Question 9

Which of the following immunoglobulins is primarily responsible for mucosal immunity?

Accepted Answer

IgA

Answer

IgG

Answer

IgM

Answer

IgE

Question 10

What is the role of cytokines in the immune response?

Accepted Answer

To regulate cell growth and differentiation

Answer

To directly kill pathogens

Answer

To present antigen to immune cells

Answer

To activate the complement system

Question 11

Which of the following cell types is primarily responsible for cellular immunity?

Accepted Answer

T lymphocytes

Answer

B lymphocytes

Answer

Neutrophils

Answer

Macrophages

Question 12

What is the difference between innate and adaptive immunity?

Accepted Answer

Innate immunity is non-specific, while adaptive immunity is specific

Answer

Adaptive immunity is non-specific, while innate immunity is specific

Answer

Innate immunity is mediated by antibodies, while adaptive immunity is mediated by T cells

Answer

Adaptive immunity is mediated by antibodies, while innate immunity is mediated by T cells

Question 13

Which laboratory marker is primarily used to assess T-cell function in the evaluation of immunodeficiency disorders?

Accepted Answer

CD4+ T-cell count

Answer

Immunoglobulin A (IgA)

Answer

Immunoglobulin E (IgE)

Answer

Natural killer (NK) cell activity

Question 14

Which of the following is **NOT** a primary immunodeficiency disorder?

Accepted Answer

Acquired immunodeficiency syndrome (AIDS)

Answer

Severe combined immunodeficiency (SCID)

Answer

Common variable immunodeficiency (CVID)

Answer

X-linked agammaglobulinemia (XLA)

Question 15

Which type of immunoglobulin is most commonly deficient in CVID?

Accepted Answer

IgG

Answer

IgA

Answer

IgM

Answer

IgE

Question 16

Which characteristic is NOT seen in primary immunodeficiency disorders?

Accepted Answer

Development later in life

Answer

Genetic basis

Answer

Early onset

Answer

Increased susceptibility to infections

Question 17

Which type of immunodeficiency disorder is caused by impaired antibody production?

Accepted Answer

Humoral immunodeficiency

Answer

Cell-mediated immunodeficiency

Answer

Combined immunodeficiency

Answer

Phagocytic immunodeficiency

Question 18

Which immune cell type plays a primary role in cell-mediated immunity?

Accepted Answer

T cells

Answer

B cells

Answer

Neutrophils

Answer

Macrophages

Question 19

Which cytokine is involved in regulating B cell differentiation?

Accepted Answer

Interleukin-4

Answer

Interleukin-2

Answer

Interferon-gamma

Answer

Tumor necrosis factor-alpha

Question 20

Which immunoglobulin class is the most abundant in the human body?

Accepted Answer

IgG

Answer

IgA

Answer

IgD

Answer

IgM

Question 21

Primary Immunodeficiency Disorder Characterized by Antibody Production Defects

Which of the following primary immunodeficiency disorders is characterized by impaired antibody production?

Accepted Answer

X-linked agammaglobulinemia

Answer

Chronic granulomatous disease

Answer

Severe combined immunodeficiency

Answer

Hyper-IgE syndrome

Question 22

Test for Measuring Antibody Levels

Which test is used to determine the concentration of antibodies in a patient's blood?

Accepted Answer

Immunoglobulin quantification

Answer

Complete blood count

Answer

Flow cytometry

Answer

Genetic testing

Question 23

Common Treatment for X-linked Agammaglobulinemia

Intravenous immunoglobulin (IVIG) therapy is commonly used to treat which immunodeficiency disorder?

Accepted Answer

X-linked agammaglobulinemia

Answer

Chronic granulomatous disease

Answer

Severe combined immunodeficiency

Answer

Hyper-IgE syndrome

Question 24

True or False: Secondary Immunodeficiency Disorders

Secondary immunodeficiency disorders develop later in life due to factors like malnutrition or HIV infection. (True/False)

Accepted Answer

True

Answer

False

Question 25

In the treatment of immunodeficiency disorders, explain the role of bone marrow transplantation (BMT). Discuss the potential long-term risks and benefits of this procedure.

Accepted Answer

BMT can permanently correct the underlying genetic defect in some immunodeficiency disorders.

Accepted Answer

Patients who undergo BMT usually need lifelong immunosuppression to prevent rejection of the donor cells.

Answer

BMT is a low-risk procedure with minimal long-term complications.

Answer

BMT is only effective in treating primary immunodeficiency disorders.

Question 26

Which of the following best describes the diagnostic criteria for DiGeorge syndrome? Select the option that accurately identifies the clinical manifestations, genetic basis, and immunological abnormalities associated with this immunodeficiency disorder.

Accepted Answer

Recurrent infections, distinctive facial features, and T-cell immunodeficiency

Answer

Elevated IgE levels, eosinophilia, and recurrent sinus and lung infections

Answer

Low levels of gamma globulins, absence of B cells, and normal T-cell function

Question 27

Which of the following accurately describes the emerging therapeutic approaches for immunodeficiency disorders?

Accepted Answer

Gene therapy aims to restore immune function by correcting or replacing faulty genes.

Accepted Answer

Immune modulation therapies regulate immune responses through methods like cytokine administration or immune checkpoint blockade.

Answer

Gene therapy and immune modulation have shown limited success in clinical trials for immunodeficiency disorders.

Answer

The mechanisms of action of gene therapy and immune modulation in treating immunodeficiency disorders are fully understood and well-established.

Question 28

What is a characteristic of X-linked agammaglobulinemia?

Accepted Answer

Defects in the Bruton's tyrosine kinase (BTK) gene

Answer

Defects in the RAG1 and RAG2 genes

Answer

Defects in the ADA gene

Answer

Defects in the CD40 ligand gene

Question 29

Which of the following is a defining characteristic of primary immunodeficiency disorders?

Accepted Answer

Usually present from birth

Answer

Limited to defects in antibody production

Answer

Caused by external factors

Answer

Acquired after birth

Question 30

Which type of immunodeficiency disorder primarily affects the production of antibodies?

Accepted Answer

Antibody deficiency

Answer

Phagocytic deficiency

Answer

Cell-mediated deficiency

Answer

Complement deficiency

Question 31

Which laboratory test is commonly used to evaluate immune cell populations in immunodeficiency disorders?

Accepted Answer

Flow cytometry

Answer

Chest X-ray

Answer

Urinalysis

Answer

Complete blood count

Question 32

What is the primary treatment approach for severe combined immunodeficiency?

Accepted Answer

Hematopoietic stem cell transplant

Answer

Antibiotics

Answer

Immunoglobulin replacement therapy

Answer

Gene therapy

Question 33

What is the typical prognosis for individuals with untreated severe combined immunodeficiency?

Accepted Answer

Death within the first year of life

Answer

Significant disability despite treatment

Answer

Normal life expectancy with treatment

Answer

Good prognosis with early diagnosis and treatment

Question 34

Which of the following is an example of a phagocytic deficiency?

Accepted Answer

Chronic granulomatous disease

Answer

Common variable immunodeficiency

Answer

Selective IgA deficiency

Answer

X-linked agammaglobulinemia

Question 35

Which of the following is NOT considered a primary immunodeficiency disorder?

Accepted Answer

AIDS

Answer

X-linked agammaglobulinemia

Answer

Severe combined immunodeficiency (SCID)

Answer

Common variable immunodeficiency (CVID)

Question 36

Which diagnostic test is commonly used to evaluate for Severe Combined Immunodeficiency (SCID)?

Accepted Answer

Flow cytometry

Answer

Serum immunoglobulin levels

Answer

T-cell function tests

Answer

Antibody titers

Question 37

Which treatment approach is commonly employed for Common Variable Immunodeficiency (CVID)?

Accepted Answer

Intravenous immunoglobulin (IVIG)

Answer

Stem cell transplant

Answer

Antibiotics

Answer

Splenectomy

Question 38

Which of the following is considered a risk factor for developing an immunodeficiency disorder?

Accepted Answer

HIV infection

Answer

Hypertension

Answer

Smoking

Answer

Diabetes

Question 39

Which term describes an immunodeficiency disorder characterized by a deficiency in antibody production?

Accepted Answer

Hypogammaglobulinemia

Answer

Neutropenia

Answer

Thrombocytopenia

Answer

Anemia

Question 40

Which of the following is a primary function of the immune system?

Accepted Answer

To recognize and eliminate pathogens

Answer

To control body temperature

Answer

To regulate blood pressure

Answer

To digest food

Question 41

Which type of immunodeficiency disorder specifically affects the function of T cells?

Accepted Answer

T-cell deficiency

Answer

B-cell deficiency

Answer

Complement deficiency

Answer

Phagocytic cell deficiency

Question 42

A patient presents with recurrent bacterial infections, particularly involving the lungs and sinuses. Laboratory findings demonstrate low levels of IgG and IgA. Which of the following is the most likely diagnosis?

Accepted Answer

Common variable immunodeficiency

Answer

Hyper-IgM syndrome

Answer

X-linked agammaglobulinemia

Answer

Selective IgA deficiency

Question 43

Severe combined immunodeficiency (SCID) is characterized by the absence of which of the following cells?

Accepted Answer

T and B cells

Answer

Eosinophils

Answer

NK cells

Answer

Neutrophils

Question 44

Which of the following treatments is commonly used for X-linked agammaglobulinemia?

Accepted Answer

Intravenous immunoglobulin (IVIG) replacement

Answer

Stem cell transplant

Answer

Antibiotic prophylaxis

Answer

Splenectomy

Question 45

Which of the following is a secondary immunodeficiency commonly associated with HIV infection?

Accepted Answer

CD4+ T cell depletion

Answer

Neutrophil dysfunction

Answer

Hyper-IgE syndrome

Answer

Common variable immunodeficiency

Question 46

A patient with a history of recurrent infections presents with low levels of IgG and IgA, as well as an elevated IgE level. Which of the following is the most likely diagnosis?

Accepted Answer

Hyper-IgE syndrome

Answer

X-linked agammaglobulinemia

Answer

Common variable immunodeficiency

Answer

Selective IgA deficiency

Question 47

Which of the following is NOT a risk factor for developing a secondary immunodeficiency disorder?

Accepted Answer

Maintaining a healthy diet

Answer

Splenectomy

Answer

Chronic malnutrition

Answer

Diabetes mellitus

Question 48

Which of the following is a promising new treatment approach for severe combined immunodeficiency?

Accepted Answer

Gene therapy

Answer

Splenectomy

Answer

Intravenous immunoglobulin (IVIG) replacement

Answer

Antibiotic prophylaxis

Question 49

Which of the following is a type of primary immunodeficiency disorder?

Accepted Answer

X-linked agammaglobulinemia (XLA)

Answer

Acquired immunodeficiency syndrome (AIDS)

Answer

Type 1 diabetes

Question 50

Which of the following is a characteristic clinical presentation of SCID?

Accepted Answer

Recurrent infections starting in infancy

Answer

Delayed puberty

Answer

Autoimmune disorders

Answer

Normal growth and development

Question 51

Which of the following laboratory tests is most useful in the diagnosis of CVID?

Accepted Answer

Serum immunoglobulin levels

Answer

Complete blood count (CBC)

Answer

T-cell subsets

Answer

Skin biopsy

Question 52

Which of the following treatments is indicated for patients with XLA?

Accepted Answer

Intravenous immunoglobulin (IVIG) replacement therapy

Answer

Antibiotics

Answer

Bone marrow transplant

Question 53

Which of the following is a common complication of secondary immunodeficiency disorders?

Accepted Answer

Pneumonia

Answer

Hemolytic anemia

Answer

Renal failure

Answer

Graft-versus-host disease (GVHD)

Question 54

Which of the following is a characteristic feature of DiGeorge syndrome?

Accepted Answer

Thymic hypoplasia

Answer

Eosinophilia

Answer

Splenomegaly

Answer

Hypergammaglobulinemia

Question 55

Which of the following is a first-line treatment for Wiskott-Aldrich syndrome?

Accepted Answer

Hematopoietic stem cell transplant (HSCT)

Answer

Antibiotics

Answer

Splenectomy

Answer

Intravenous immunoglobulin (IVIG) replacement therapy

Question 56

Which of the following immunoglobulins is most effective in preventing bacterial infections?

Accepted Answer

IgG

Answer

IgM

Answer

IgE

Answer

IgA