IMMUNODEFICIENCY 1.0

Question 1

Classification of Immunodeficiency

Answer 1

a. Primary
b. Secondary

Question 2

Types of immunodeficiency

Answer 2

a. Humoral (B-cell) Immunodeficiency
b. Cellular (T-cell) Immunodeficiency
c. Combined B-cell and T-Cell Deficiency
d. Other Types
* Iatrogenic Deficiency
* Nutritional Deficiency

Question 3

Refers to a state in which the immune system’s ability to fight infections and diseases is compromised or entirely absent.

Answer 3

IMMUNODEFICIENCY

Question 4

This condition can lead to increased susceptibility to infections, more severe illnesses, and a higher risk of developing certain cancers.

Answer 4

IMMUNODEFICIENCY

Question 5

Refers to a condition characterized by an innate, acquired, or induced inability to develop a normal immune response.

Answer 5

IMMUNODEFICIENCY

Question 6

TYPES OF IMMUNODEFICIENCY:

• Usually present at birth and are genetic disorders that are usually hereditary.
• Typically become evident during infancy or childhood.
• All are relatively rare!

Answer 6

PRIMARY IMMUNODEFICINECY

There are more than 100 primary immunodeficiency disorders.

Question 7

TYPES OF IMMUNODEFICIENCY:

• Generally develop later in life.
• Result from use of certain drugs or from another disorder.

Answer 7

SECONDARY IMMUNODEFICIENCY

They are more common than primary immunodeficiency disorders.

Question 8

TYPES OF IMMUNODEFICIENCY:

These are immunodeficiency disorders that a person is born with, usually due to genetic defects that affect the development or function of the immune system.

Answer 8

PRIMARY IMMUNODEFICIENCY

Question 9

PRIMARY IMMUNODEFICIENCY, classified based on which part of the immune system is affected.

Answer 9

1. Humoral (B-cell) Immunodeficiencies
2. Cellular (T-cell) Immunodeficiencies
3. Combined T-cell and B-cell Immunodeficiencies

Question 10

PRIMARY IMMUNODEFICIENCY:

• Group of disorders where there is a deficiency or dysfunction in B cells, the immune cells responsible for producing antibodies (immunoglobulins).
• These antibodies are crucial for identifying and neutralizing pathogens like bacteria and viruses.

Answer 10

Humoral (B-cell) Immunodeficiencies

Question 11

PRIMARY IMMUNODEFICIENCY:

Genetic Defects under Humoral (B-cell) Immunodeficiencies

Answer 11

• X - linked Agammaglobulinemia
• Selective IgA Deficiency

Question 12

PRIMARY IMMUNODEFICIENCY:

• A genetic defect in the BTK gene (encodes Bruton’s tyrosine kinase that is essential for B cell development).
• Patients have very few or no B cells, leading to almost no antibody production.
• Recurrent bacterial infections, especially of the respiratory and gastrointestinal tracts, beginning in infancy.

Genetic Defects under Humoral (B-cell) Immunodeficiencies

Answer 12

X - linked Agammaglobulinemia

BTK gene is located on the X chromosome, XLA follows an X-linked recessive inheritance pattern.
* Males do not have a second X chromosome to compensate for the defective gene.
* Females are usually carriers because they have one normal BTK gene on their other X chromosome, which compensates for the defective gene. However, carriers rarely show symptoms.

Question 13

PRIMARY IMMUNODEFICIENCY:

• The mutation in the BTK gene leads to a failure in the development of B cells, the cells responsible for producing antibodies.
• Without functional B cells, the body cannot produce immunoglobulins.

Genetic Defects under Humoral (B-cell) Immunodeficiencies

Answer 13

X - linked Agammaglobulinemia

The term “agammaglobulinemia” refers to the absence or severe deficiency of immunoglobulins (antibodies) in the blood.

Question 14

It is a crucial antibody found in mucous membranes lining the respiratory and gastrointestinal tracts, as well as in saliva, tears, and breast milk. It plays a key role in the first line of defense against pathogens entering the body through these routes

Answer 14

IgA

Individuals with selective IgA deficiency have low or undetectable levels of IgA, which impairs their mucosal immunity.

Question 15

PRIMARY IMMUNODEFICIENCY:

▪ Commonly associated with:
* normal B lymphocytes in peripheral blood
* normal CD4+ and CD8+ T cells
* usually, normal neutrophil and lymphocyte counts

▪ Many are asymptomatic.
▪ Some people may have recurrent respiratory infections (e.g., sinusitis, bronchitis) or gastrointestinal infections due to the lack of IgA.

Genetic Defects under Humoral (B-cell) Immunodeficiencies

Answer 15

IgA Deficiency

Question 16

PRIMARY IMMUNODEFICIENCY:

• Group of disorders where the body has an inadequate or dysfunctional T-cellmediated immune response.
• T cells are a type of lymphocyte (white blood cell) essential for coordinating the immune system’s response to infections, especially those caused by viruses, fungi, and certain bacteria.

Cellular (T-cell) Immunodeficiencies

Answer 16

DiGeorge Syndrome

When T-cell function is impaired, the body’s ability to fight infections and regulate immune responses is significantly compromised.

Question 17

PRIMARY IMMUNODEFICIENCY:

• Caused by a deletion in the 22q11.2 region of chromosome 22. This region contains several genes crucial for normal development, and the loss of these genes leads to the various manifestations of the syndrome.
• Leads to thymic hypoplasia or aplasia (underdevelopment or absence of the thymus gland).
• The thymus is where T cells mature, so its underdevelopment leads to T-cell deficiency

Cellular (T-cell) Immunodeficiencies

Answer 17

DiGeorge Syndrome

• Cardiac Abnormalities: TOF, VSD
• Cleft Palate
• Facial Features: Long face, almond-shaped eyes, a broad nasal bridge, small mouth, and a small chin.
• Thymic Hypoplasia or Aplasia:.
• Hypocalcemia: Due to underdeveloped parathyroid glands
• Developmental Delays: Delays in speech, motor skills, and learning.
• Behavioral and Psychiatric Disorders: ADHD

Question 18

PRIMARY IMMUNODEFICIENCY:

• Group of primary immunodeficiency disorders characterized by defects in both T-cell and B-cell functions.
• These immunodeficiencies severely compromise the immune system, leading to an increased susceptibility to a wide rangeof infections, including bacterial, viral, and fungal infections.
• These conditions are usually congenital (present from birth) and are often lifethreatening without early diagnosis and treatment.

Answer 18

Combined T-Cell and B-Cell Immunodeficiencies

Question 19

PRIMARY IMMUNODEFICIENCY:

Groups of Genetic Disorder under Combined T-Cell and B-Cell Immunodeficiencies

(Syndromes)

Answer 19

1. Severe Combined Immunodeficiency Syndrome (SCIDS)
2. Wiskott-Aldrich Syndrome

Question 20

PRIMARY IMMUNODEFICIENCY: | Combined T and B-Cell Immunodeficiencies

• A group of genetic disorders that result in little or no immune function due to profound defects in both T cells and B cells.
• Most forms of these are inherited in an X-linked or autosomal recessive manner.

Answer 20

Severe Combined Immunodeficiency Syndrome (SCIDS)

Question 21

PRIMARY IMMUNODEFICIENCY: | Combined T and B-Cell Immunodeficiencies

FEATURES:
* Severe Infections: Infants with this present with severe, recurrent infections within the first few months of life. These can include pneumonia, chronic diarrhea, and opportunistic infections like Pneumocystis jirovecii pneumonia.
* Failure to Thrive: Affected infants may fail to gain weight and grow as expected.
* Absence of Lymphoid Tissue: Physical examination may reveal absent or small tonsils

Answer 21

Severe Combined Immunodeficiency Syndrome (SCIDS)

Question 22

PRIMARY IMMUNODEFICIENCY: | Combined T and B-Cell Immunodeficiencies

A rare X-linked genetic disorder characterized by a triad of symptoms: eczema, thrombocytopenia (low platelet count), and combined immunodeficiency, affecting both Tcell and B-cell functions.

Answer 22

Wiskott-Aldrich Syndrome

The syndrome was first described by Dr. Alfred Wiskott in 1937 and further detailed by Dr. Robert Aldrich in 1954.

Question 23

PRIMARY IMMUNODEFICIENCY: | Combined T and B-Cell Immunodeficiencies

An X-linked recessive manner, meaning it primarily affects males, while females are usually carriers

Answer 23

Wiskott-Aldrich Syndrome

Caused by mutations in the WAS gene, which provides instructions for making the WiskottAldrich syndrome protein (WASP).

Question 24

It is involved in the regulation of the cytoskeleton of cells, particularly in immune cells like T cells, B cells, and platelets.

Answer 24

WiskottAldrich Syndrome Protein(WASP)

Question 25

# **Classification of Immunodeficiency:** * Refers to an acquired impairment of the immune system that occurs due to external factors, rather than a congenital or genetic cause. * These factors can weaken the immune response, making the body more susceptible to infections, diseases, and other health issues.

Answer 25

SECONDARY IMMUNODEFICIENCY

Question 26

# **SECONDARY IMMUNODEFICIENCY** | Infections The most well-known cause, where the Human Immunodeficiency Virus (HIV) attacks and destroys CD4+ T cells, leading to a weakened immune system and, if untreated, progressing to Acquired Immunodeficiency Syndrome (AIDS).

Answer 26

HIV/AIDS

Question 27

# **SECONDARY IMMUNODEFICIENCY** | Infections Persistent infections can exhaust the immune system and lead to secondary immunodeficiency.

Answer 27

Chronic or severe infections

Question 28

# **SECONDARY IMMUNODEFICIENCY** | Malnutrition Lack of essential nutrients weakens the immune system, particularly affecting the production and function of immune cells.

Answer 28

Protein-energy malnutrition

Question 29

# **SECONDARY IMMUNODEFICIENCY** | Malnutrition Deficiencies in vitamins like A, C, D, and minerals like zinc and iron can impair immune responses.

Answer 29

Vitamin and mineral deficiencies

Question 30

# **SECONDARY IMMUNODEFICIENCY** | Medical Treatment Used to treat cancer, it can damage or destroy bone marrow cells, reducing the production of immune cells.

Answer 30

Chemotherapy

Question 31

# **SECONDARY IMMUNODEFICIENCY** | Medical Treatment Medications used to prevent organ transplant rejection or treat autoimmune diseases suppress the immune system, making the body more vulnerable to infections.

Answer 31

Immunosuppressive Drugs

Question 32

# **SECONDARY IMMUNODEFICIENCY** | Medical Treatment Used in cancer treatment, it can damage the bone marrow and reduce immune cell production.

Answer 32

Radiation Therapy

Question 33

# **SECONDARY IMMUNODEFICIENCY** | Chronic Diseases High blood sugar levels can impair the immune system's ability to function properly.

Answer 33

Diabetes

Question 34

# **SECONDARY IMMUNODEFICIENCY** | Chronic Diseases Can lead to a buildup of waste products that suppress immune function

Answer 34

Kidney Disease

Question 35

# **SECONDARY IMMUNODEFICIENCY** | Chronic Diseases Impairs the production of proteins critical for immune function.

Answer 35

Liver Disease

Question 36

# **SECONDARY IMMUNODEFICIENCY** The immune system naturally weakens with age, leading to a decreased ability to fight infections and diseases.

Answer 36

Aging

Question 37

# **SECONDARY IMMUNODEFICIENCY:** Chronically, it can suppress the immune system by increasing the production of cortisol, a hormone that can inhibit immune responses.

Answer 37

Stress

Question 38

These factors under **SECONDARY IMMUNODEFICIENCY** can weaken the immune response:

Answer 38

* Infections * Malnutrition * Medical Treatment * Chronic Diseases * Aging * Stress

Question 39

What are the different **CONSEQUENCES** of SECONDARY IMMUNODEFICIENCY

Answer 39

* Increased Susceptibility to Infections * Delayed Recovery * Increased Risk of Cancer

Question 40

# **CONSEQUENCE** of SECONDARY IMMUNODEFICIENCY Individuals with secondary immunodeficiency are more prone to frequent and severe infections, including opportunistic infections.

Answer 40

Increased Susceptibility to Infections

Question 41

# **CONSEQUENCE** of SECONDARY IMMUNODEFICIENCY The body’s ability to recovery from infections and injuries is often compromised.

Answer 41

Delayed Recovery

Question 42

# **CONSEQUENCE** of SECONDARY IMMUNODEFICIENCY The weakened immune system may not be able to detect and destroy cancer cells as effectively, leading to an increased risk of malignancies

Answer 42

Increased Risk of Cancer

Question 43

RISK FACTORS OF IMMUNODEFICIENCY DISORDERS

Answer 43

* Family History * Decreased Functional Capacity of I.S. * Aging * Low Protein Intake * Lack of Sleep * Immunosuppressive

Question 44

INDICATIONS OF IMMUNODEFICIENCY DISORDERS

Answer 44

* Multiple infections despite aggressive treatment * Infections with unusual or opportunistic organisms * Failure to thrive or poor growth * Positive family history