Classification 1. Based on Cause

- Primary Immunodeficiency - Secondary Immunodeficiency

Immunodeficiency Disorders Flashcards by Kyra Catedral

is when the immune system errs by failing to protect the host from disease-causing agents or from malignant cells.

Immunodeficiency

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Immunodeficiency

• Classification

Based on the cause
Based on component affected

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Classification

Based on Cause

Primary Immunodeficiency
Secondary Immunodeficiency

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Based on Cause

• conditions resulting from a genetic or developmental defect in the immune system

Primary Immunodeficiency

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Based on Cause

• loss of immune function and results from exposure to various agents

Secondary Immunodeficiency

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Disease-carrying gene(s)

Child born with IgA deficiency, CVI, SCID, or others

primary immune deficiency

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Secondary

Intravenous (IV) drug abuse unsafe sexual activity, and other risk behaviors
• Mainutrition
› Chronic diseases (such as diabetes)
• Medications (such as corticosteroids)

Development of AIDS or other secondary immune deficiency

Impaired (weakened immune response

Secondary Immune Deficiency

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Classification

Based on Component Affected

B cell
T cell
Phagocyte
Complement

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• Encapsulated bacteria (S. pneumoniae)

• AIDS (affects CD4 Thelper cells)

• Pyogenic infections (i.e. caused by bacteria)

• Lack of MAC (Neisserial infections)

B cell
T cell
Phagocyte
Complement

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Types of Immunodeficiencies

B Cell
T cell
Combined B & T
Phagocyte
Complement

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B Cell

Bruton’s X-linked Aggamaglobulinemia

Common Variable Immunodeficiency
Disorders

Transient Hypogammaglobulinemia
of the Newborn

Hyper IgM

Hyper IgE

IgA deficiency

Isolated IgG Subclass Deficiency

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T cell

DiGeorge Syndrome

Purine-nucleoside phosphorylase deficiency

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Combined B & T

Severe Combined Immunodeficiency

a. Bare Lymphocyte Syndrome
b. X-linked SCID
c. Adenosine Deaminase Deficiency

Wiskot-Aldrich Syndrome

Ataxia Telangiectasia

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Phagocyte

Chronic Granulomatous Disease

Chediak-Higashi Syndrome

Leukocyte Adhesion Defect

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Complement

МАС Deficiency

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Bruton’s X-Linked Agammaglobulinemia
- - discoverer

Dr. Ogden Bruton

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Is a rare genetic disorder that affects the body’s ability to fight infection
Absence of BTK gene that codes for enz (Bruton’s tyrosine kinase)

Bruton’s X-Linked Agammaglobulinemia

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Immature B cells will not undergo maturation due to lack of enzyme
Symptoms appear after 6-9 months of age

Bruton’s X-Linked Agammaglobulinemia

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Recurrent fungal, protozoan, viral
infections

Recurrent bacterial infections

Bruton’s X-Linked
Agammaglobulinemia

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enzyme needed for differentiation into a mature B cell

Tyrosine kinase

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Failure of mature B cells to become plasma cells
Unknown mechanism (idiopathic)

Common Variable Immunodeficiency (CVI)

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CVI

Congenital presentation; _____\deficiency

IgA and IgG

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● Failure of the mature B cells to respond to T cells
thus they cannot differentiate into plasma cells

Common Variable Immunodeficiency

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CVI DETECTION

(+) B cell:

• CD19 and CD20
• Nylon test
• Electron microscopy
• Mitogen (LPS & DEXTRAN)

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- LOW ANTIBODIES - HYPOGAMMAGLOBULENEMIA OF 2 OR MORE IMMUNOGLOBULIN ISOTYPE

CVI

- Failure of B cells to produce antibodies due to delayed maturation of T cell in thymus

Transient Hypogammaglobulinemia

- Also referred to as Pediatric Hypogammaglobulinemia

Transient Hypogammaglobulinemia

- Starts at 4 months and upon clearance of maternal IgG, there is persistently lower IgG levels that can last up to 3 years

Transient Hypogammaglobulinemia

T cell-independent B cell activation _____secretion

IgM

T cell-dependent B cell activation ____secretion

IgG

- Increased levels of IgM - Low levels of all other isotypes: IgG, IgA, IgD, IgE

X-Linked Hyper IgM Syndrome

X-Linked Hyper IgM Syndrome - Absence of____ ligand on Thelper cell - No class switching

CD40

CD40 present on the surface of B cells will react with CD40 ligand on Thelper cells to initiate class switching of____ to_____

IgM to IgG

- Impaired IL-2 production - Hyperactive Th2 - Prone to allergic reactions

Hyper IgE

- Most common primary immunodeficiency - Failure of B cells to become IgA-producing plasma cells

IgA deficiency

- Unknown mechanism (idiopathic) - Recurrent gastrointestinal and respiratory infection

IgA deficiency

Isolated IgG Subclass Deficiency - Protein antigens:

IgG1 and IgG3

Isolated IgG Subclass Deficiency - Carbohydrate antigens:

IgG2

IgG Subclass Concentration in the Blood IgG1 IgG2 IgG3 IgG4

70% 20% 6% 4%

T Cell Immunodeficiency - 22q11.2 deletion syndrome - Absence of chromosome 22q

DiGeorge Syndrome / DiGeorge Anomaly

T Cell Immunodeficiency DiGeorge Syndrome / DiGeorge Anomaly -______ deletion syndrome - Absence of chromosome___

22q11.2 22q

- Impaired development of 3rd and 4th pharyngeal pouch which will give rise to: • Hard palate • Part of aorta • Parathyroid gland • Thymus

DiGeorge Syndrome / DiGeorge Anomaly

DiGeorge Syndrome / Anomaly CATCH 22

Cleft palate Abnormal faceii (monkey) Thymic hypoplasia Cardiovascular disorder Hypocalcemia

- When DNA is broken down=production of purines

Purine-nucleoside phosphorylase deficiency (PNP Deficiency)

- Impaired metabolism of purines due to mutations in the PNP gene results to toxic purine metabolites

Purine-nucleoside phosphorylase deficiency (PNP Deficiency)

- Accumulation of deoxyguanosine triphosphate (dGTP) - Number of T cells progressively decreases

Purine-nucleoside phosphorylase deficiency (PNP Deficiency)

- S/S: • Neurologic disorders • Recurrent or chronic pulmonary infections, diarrhea, urinary tract infections (UTI), skin infections

Purine-nucleoside phosphorylase deficiency (PNP Deficiency)

Severe Combined Immunodeficiency (SCID) - 3 SCID Types:

a. Bare Lymphocyte Syndrome b. X-Linked SCID c. Adenosine Deaminase Deficiency

- absence of Type I (MHC Class I) Type II (MHC Class Il) aka TAP2 deficiency

Bare Lymphocyte Syndrome

_____SCID - absence of receptors for IL-7 and IL-15

X-Linked

mutations in the ADA gene that codes for adenosine deaminase enzyme

Adenosine Deaminase Deficiency

→ CD43 is present in lymphocytes and platelets

Wiskott-Aldrich Syndrome (WAS)

abnormality in integral membrane (CD43) ;

Wiskott-Aldrich Syndrome (WAS) -

gene responsible for defect:(Wiskott-Aldrich Syndrome)

WASp gene

Triad of WAS

• Decreased platelet survival • Abnormal skin function (eczema) • Defects in T and B cell function

Aka______ is a neurodegenerative inherited disorder; absence of ATS gene which codes for ATM protein

Ataxia-Telangiectasia (AT) Syndrome - aka Louis-Bar syndrome

gene product is a protein with multiple functions. One of these is assisting cells to recognize damaged DNA for its repair. In the nucleus, the product also helps control rate of cell growth and division

ATM

Mutated____ leads to hypersensitivity of cells to radiation because damaged DNA accumulates instead of being repaired. Unregulated cell growth leads to tumor formation. Cells in the cerebellum die affecting coordinated movement. In the eye the conjunctiva have small dilated blood vessels (telangiectasias). Oculomotor apraxia occurs.

ATM

- absence of NADPH oxidase; suppurative infection

Chronic Granulomatous Disease (CGD)

• Semiquantitative assay * Tests the phagocytic function of polymorphonuclear leukocytes (PMNL) • Cells reduce a colorless NBT into a blue-black deposit within the cell • In CGD, the PMNLs will not turn blue

Nitro Blue-Tetrazolium Test (NBT)

- absence of LYST gene (lysosomal trafficking) which codes for LYST protein, important in the fusion of lysosome with phagosome

Chediak-Higashi Syndrome

Chediak-Higashi Syndrome - absence of ____which codes for LYST protein, important in the fusion of lysosome with phagosome

LYST gene (lysosomal trafficking)

Chediak-Higashi Syndrome - absence of ____which codes for LYST protein, important in the fusion of lysosome with phagosome

LYST gene (lysosomal trafficking)

ALBINISM -______ helps transport melanin into melanocytes

lyst protein

Leukocyte Adhesion Defect / Deficiency (aka Lazy Leukocyte Syndrome)

- Type I: absence of integrin - Type Il: absence of L-selectin (CD62L) and Sialyl-Lewis X-modified glycoprotein (CD15s)

— Also absence of CD18/CD11 adhesion receptors on T cells, neutrophils, and monocytes - Results in abnormal adhesion, motility, and chemotaxis of cells

Leukocyte Adhesion Defect / Deficiency

— S/S: • Delayed wound healing • Chronic skin infections

Leukocyte Adhesion Defect / Deficiency

Complement Component Deficiency • Lack of______ • No cytolysis of (intracellular) pathogen • Recurrent infection

MAC (C5b6789)

Immunodeficiency Disorders Flashcards

(68 cards)