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Alternate Immunology > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Asplenia

A

Affected genes: N/A

Immune Defect: Absence of the Spleen

Susceptibility: encapsulated extracellular bacteria and sepsis

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2
Q

C3 deficiency

A

Affected genes: C3

Immune Defect: Lack of C3

Susceptibility: Recurrent infection with gram-negative bact.

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3
Q

Paroxysmal nocturnal hemoglobinuria

A

Affected genes: phosphatidylinositol glycan biosynthesis

Immune Defect: Lack of DAF, HRF, and CD59

Susceptibility: lysis of erythrocytes by complement

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4
Q

NEMO immunodeficiency (X-linked hypohidrotic ectodermal dysplasia and immunodeficiency)

A

Affected genes: NEMO

Immune Defect: Impaired activation of NFkB

Susceptibility: Chronic bacterial and viral infections

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5
Q

Chronic Granulomatous Disease

A

Affected genes: NADPH oxidase
Immune Defect: Impaired neutrophil function

Susceptibility: Chronic Bacterial and fungal infections

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6
Q

MBL Deficiency

A

Affected genes: Mannose Binding Lectin (MBL)
Immune Defect: Deficient MBL

Susceptibility: Neisseria meningitidis

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7
Q

NK-cell Deficiency

A

Affected genes: unknown
Immune Defect: No NK cells

Susceptibility: herpes viruses

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8
Q

X-Linked hyper IgM syndrome

A

Affected genes: AID or CD40 ligand or CD40 or NEMO
Immune Defect: No isotype switching or somatic hypermutation

Susceptibility: Extracellular bacterial and fungal infections

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9
Q

SCID

A

Affected genes: RAG1 or RAG2
Immune Defect: No gene rearrangements in B and T cells

Susceptibility: All infections

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10
Q

Omenn Syndrome

A

Affected genes: RAG1 or RAG2 (or Artemis)
Immune Defect: Impaired RAG function

Susceptibility: All infections

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11
Q

Bare lymphocyte syndrome (MHC1)

A

Affected genes: TAP1 or TAP2
Immune Defect: low MHC1 expression

Susceptibility: Respiratory Viral infections

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12
Q

Pre-B-cell deficiency

A

Affected genes: lambda5
Immune Defect: No B-cells and antibodies

Susceptibility: Persistent bacterial infections

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13
Q

X-linked agammaglobulinemia

A

Affected genes: Bruton’s thymidine kinase (BtK)
Immune Defect: B cells blocked at pro-B-cell stage

Susceptibility: Recurrent bacterial infections

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14
Q

Complete DiGeorge’s Syndrome

A

Affected genes: Unknown
Immune Defect: Absence of the thymus and T Cells

Susceptibility: All Types of Infection

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15
Q

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

A

Affected genes: AIRE
Immune Defect: Reduced tolerance to self antigens

Susceptibility: Autoimmune disorder

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16
Q

ZAP-70 deficiency

A

Affected genes: ZAP 70
Immune Defect: No CD8 T cells and CD4 T cells that cannot signal through receptors

Susceptibility: All types

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17
Q

Autoimmune lymphoproliferative syndrome

A

Affected genes: Fas or Fas ligand
Immune Defect: Enlarged spleen and lymph nodes

Susceptibility: Lymphomas and autoimmunities

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18
Q

IgG2 deficiency

A

Affected genes: Not known
Immune Defect: Lack of IgG2

Susceptibility: encapsulated bacteria

19
Q

Selective IgA deficiency

A

Affected genes: Unknown
Immune Defect: Lack of IgA

Susceptibility: Parasites

20
Q

Why does asplenia lead to sepsis?

A

The spleen acts as one of the two main blood filters in the body, and so it removes complement complexes and bacteria from the blood. Lacking it cuts in at least half the amount of blood filtration possible.

21
Q

Does acquired aspenia cause the same problems as inherited asplenia? What is the treatment?

A

Yes, they are both treated with vaccination against encapsulated bacteria and with prophylactic antibiotics before dental treatment

22
Q

Leukocyte adhesion deficiency

A

Cellular Abnormality: Def. CD18 (cell adhesion)

Immune defect: Def. Migration of phagocytes into infected tissues

Associated diseases: Widespread infections, esp. with capsulated bacteria

23
Q

Chronic Granulomatous Disease

A

Cellular Abnormality: Def. NADPH oxidase

Immune defect: diminished bacteriocidal activity

Associated diseases: Chronic bacterial and fungal infections.

24
Q

Glc-6-phosphate dehydrogenase deficiency

A

Cellular Abnormality: Def. G-6-P dehydrogenase. Def. respiratory burst

Immune defect: impaired bacteriocidal activity of phagocytes

Associated diseases: Induced anemia with chronic bacterial and fungal infections

25
Q

Myeloperoxidase deficiency

A

Cellular Abnormality: def. of myeloperoxidase in neutrophil granules and macrophage lysosomes

Immune defect: impaired phagocytic killing

Associated diseases: Chronic Infections

26
Q

Chediak-Higashi syndrome

A

Cellular Abnormality: Def. in vesicle fusion

Immune defect: impaired phagocytosis due to fusion failure

Associated diseases: recurrent and persistent infections, often with granulomas

27
Q

What defines a neutropenia?

A

neutrophil count of less than 500 cells/mcl (normal >2000)

28
Q

What distinguishes Absolute, classical, and functional NK call deficiency?

A

Absolute NK cell deficiency has no production of any kind of NK cells (including NKT cells)

Classical NK cell deficiency has no production of NK cells, but normal or near normal production of NKT cells.

Functional NK cell deficiency involves normal numbers of NK cells which are nearly or completely non-functional (with or without NKT cells)

29
Q

Name two defects that could result in functional NK cell deficiency.

A

Defective perforin genes

Defective formation of cytoplasmic granules

30
Q

What defect would result in either absolute or classical NK def.

A

Defective development in the bone marrow

31
Q

What would be the clinical presentations of these conditions? (Hint: What do NK cells do?)

A

Increased susceptibility to viral infections, including the opportunistic Mycobacterium avium

32
Q

What are the main roles of NFkB

A

It serves as a signal of development for many cell types and is involved in the innate immune response.

33
Q

What activates NFkB?

A

Most TLRs

34
Q

Defective NFkB leads to what clinical problems? How do you treat this severe disease?

A

Increased opportunistic and persistent infections (bacterial and viral). It is treated with weekly injections of donor IgG and, eventually, with a bone marrow transplant.

35
Q

What is the most common result of a deficiency in the complement cascade? Are there any other common effects?

A

A susceptibility to extracellular bacteria. Sometimes these deficiencies also lead to autoimmune syndromes and (with C3 def.) a susceptibilty to encapsulated bacteria.

36
Q

Lacking C1 inhibitor leads to what disorder characterized by intense systemic edema?

A

HANE

37
Q

If DAF or CD59 are lacking what will be the result?

A

Paroxysmal Nocturnal Hemoglobinuria

38
Q

Why does a deficiency of MBL lead to recurrent severe bacterial infections and a susceptibility to Neisseria meningitidis?

A

MBL is required for the activation of the MASP1 and 2 proteins in the lectin complement cascade, and without this the immune response to bacteria is severely limited.

39
Q

What is the normal result of a deficiency in antibodies? What would be an effective treatment?

A

A susceptibility to extracelluar bacteria.

Treatment is replacement therapy with donor IgG

40
Q

Why would X-linked agammaglobulinemia (BtK deficiency) result in a susceptibility the viral as well as bacterial infections?

A

The inability to neutralize the virions present in the blood would give rise to a susceptibility to viral infections.

41
Q

Why would a defect in the gene coding for pre-B light chain (lambda 5) prevent the complete development of the B Cells?

A

Without the pre-B light chain the heavy chain is unstable and will degrade before the light chain can be produced. This will cause the B cells to become anergic and die.

42
Q

What are the two causes of hyper IgM disorder? Which would affect macrophages as well as B-Cells?

A

A deficiency in the CD40/CD40 ligand system or in AID can cause hyper IgM, but a deficiency in the CD40/CD40 ligand system would also prevent the activation of macrophages.

43
Q
A

Alternate Immunology (1 decks)

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