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Immunology Block 2 > 14: Inherited Immunodeficiencies > Flashcards

14: Inherited Immunodeficiencies Flashcards

1
Q

Inherited immunodeficiencies are caused by ______.

A

Defects in germ-line DNA

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2
Q

Patients with asplenia have elevated susceptibility to _____________.

A

Encapsulated bacterial pathogens

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3
Q

What kind of infections are patients with asplenia especially susceptible to?

A

Septic infections since the spleen is one of the blood filters and splenic macrophages take up bacteria in the blood

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4
Q

T or F: Asplenia can be acquired or inherited.

A

T

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5
Q

What is the clinical intervention for asplenia?

A
  • Vaccination for encapsulated bacterial pathogens
  • Prophylactic antibiotic treatment is recommended prior to dental procedures and upon showing symptoms of respiratory infection or fever
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6
Q

What happens in leukocyte adhesion deficiency?

A

Defective CD18 causes defective migration of phagocytes into infected tissues and causes widespread infections with capsulated bacteria

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7
Q

What happens in chronic granulomatous disease (CGD)?

A

Defective NADPH oxidase prevents respiratory burst, which impairs killing of phagocytosed bacteria and leads to chronic infections and granulomas

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8
Q

What happens in glucose-6-phosphate dehydrogenase (G6PD) deficiency?

A

Defective respiratory burst, which impairs killing of phagocytosed bacteria, leading to chronic infections and sometimes anemia

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9
Q

What happens in myeloperoxiase deficiency?

A

Can’t form HOCl, which impairs killing of phagocytosed bacteria, leading to chronic bacterial and fungal infections

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10
Q

What happens in Chediak-Higashi syndrome?

A

Defect in vesicle fusion leads to impaired phagocytosis, and this causes recurrent and persistent infections and granulomas

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11
Q

What are neutropenias?

A

Disorders characterized by low numbers of granulocytes, so there is ineffective clearance of bacterial pathogens

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12
Q

T or F: Several primary immunodeficiencies have an associated neutropenia.

A

T

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13
Q

What is the typical clinical presentation of NK cell defects?

A

Typically increased incidence and severity of viral and other infections, especially varicella zoster, herpes, cytomegaloviruses, EBV, mycobacterium avium/intracellulare, and Trichophyton

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14
Q

In a genetic NK cell deficiency, what are some processes that can be affected?

A
  • Formation of cytoplasmic granules
  • Perforin defects
  • Development in bone marrow
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15
Q

Genetic deficiencies in the _______ immune system can result in reduced pattern recognition by phagocytes.

A

Innate

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16
Q

What happens in NEMO deficiency?

A

PRRs are intact, but transcription of the genes that should be expressed following recognition is deficient. There is a genetic defect in a protein required for NFkB activity.

  • Patients have recurrent bacterial and viral infections
  • Patients have: deep set eyes, sparse/fine hair, missing teeth, and unusual blistering
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17
Q

Most Toll-Like Receptor signaling activates ______, which controls cytokine expression.

A

NFkB

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18
Q

What is the treatment for NEMO deficiency?

A

Biweekly injections of gamma globulin from a healthy donor or bone marrow transplant
(stem cell transplant has also shown promise)

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19
Q

Defects in C3 or activation of C3 are associated with _________.

A

Infections by encapsulated bacteria (emphasizes the role of C3b in opsonization)

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20
Q

What happens when you have a defect of C1, C2, or C4?

A

Immune complex disease – immune complexes are deposited along vasculature, which can cause inflammation (vasculitis), especially in the kidneys

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21
Q

What happens when you have a defect of C5-C9?

A

Higher susceptibility to Neisseria

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22
Q

What happens when you have a defect of Factor D or Factor P?

A

Higher susceptibility to capsulated bacteria and Neisseria but no immune-complex disease

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23
Q

What happens when you have a defect of Factor I?

A

Susceptibility to capsulated bacteria

24
Q

What happens when you have defects in DAF or CD59?

A

Paroxymal Nocturnal Hemoglobinuria – complement-induced intravascular hemolytic anemia, red urine, and thrombosis
-Happens because there is a deficiency in the glycophosphatidylinositol tail, which interferes with MAC formation

25
Q

What happens when you have defects in C1INH?

A

HANE – systemic edema because of overproduction of anaphylatoxins

26
Q

What is the treatment for HANE?

A

C1INH replacement therapy

27
Q

What is the clinical presentation for mannose-binding lectin (MBL) deficiency?

A

Patients experience recurrent severe infections

28
Q

What is the treatment for paroxysmal nocturnal hemoglobinuria?

A

Allogenic bone marrow transplantation is curative, but C5-specific monoclonal antibody is effective at reducing the need for blood transfusions

29
Q

Antibody deficiencies result in ________.

A

Susceptibility to extracellular bacteria, especially encapsulated bugs that are resistant to phagocytosis

30
Q

What is the treatment for inherited antibody deficiencies?

A

Monthly injections of gamma globulin from healthy donors

31
Q

What is X-linked agammaglobulinemia?

A

A defect in Bruton’s tyrosine kinase that causes a significant decrease in B cell development
-Patients are susceptible to extracellular bacterial pathogens and many viruses

32
Q

What is pre-B cell receptor (lambda-5) deficiency?

A

Mutation of lambda-5 gene prevents formation of a functional surrogate light chain, so B cells can’t produce a pre-B cell receptor and undergo apoptotic death
-Patients are susceptible to both extracellular bacteria and many viral pathogens

33
Q

What are the two possible causes of X-linked hyper IgM syndrome?

A
  1. Defect in T cell function
  2. Activation-induced cytidine deaminase (AID) deficiency (AID is required for class switching and somatic hypermutation)
34
Q

X-linked hyper IgM syndrome due to defective T cell function is due to a defect in _____ expression.

A

CD40L

35
Q

T or F: Failure to form germinal centers in secondary lymphoid tissues is characteristic of X-linked hyper IgM syndrome.

A

T

36
Q

What is the most common primary immunodeficiency disorder?

A

Common Variable Immunodeficiency (CVID)

37
Q

In selective IgA deficiency, ______ can be transported across mucosal epithelia and perform the function of IgA.

A

IgM

38
Q

TAP peptide transporter deficiency results in ________.

A

Very low levels of MHC class I molecules and defective responses to intracellular pathogens due to CD8+ T cell deficiency; very low numbers of CD8+ T cells

39
Q

What happens when you have a non-sense mutation of perforin?

A

You have dramatically or totally reduced CTL activity but normal numbers of CD8 T cells and CTLs are unable to induce programmed cell death of target cells

40
Q

Patients with T cell defects are said to suffer from __________.

A

Severe Combined Immune Deficiency (SCID)

41
Q

ADA deficiency and PNP deficiency both lead to _______.

A

Accumulation of nucleotide catabolites that are particularly toxic to developing T and B cells

42
Q

What happens in bare lymphocyte syndrome?

A

Lack of expression of all MHC class II molecules results in an inability of CD4 T cells to be positively selected in the thymus

43
Q

What is Wiskott-Aldrich syndrome?

A

Defect in cytoskeletal reorganization that is needed for T cells to deliver cytokines nd other signals to B cells and macrophages

44
Q

What happens in common gamma chain deficiency?

A

Normally, the common gamma chain is the signaling component of a number of cytokine receptors that interacts with Jak3 to initiate signaling. People that fail to produce this protein can’t initiate signaling of the cytokine receptors and they have SCID.

45
Q

What is Omenn syndrome?

A

Missense mutations that result in partially active RAG enzymes. This leads to an absence of B cells and low numbers of oligoclonal auto reactive T cells.

  • Patients develop fungal, bacterial, and viral infections
  • Symptoms: erythoderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly
46
Q

What is the treatment for Omenn syndrome?

A

Bone marrow transplant

47
Q

What happens in Complete DiGeorge Syndrome?

A
  • Patient has absent or nonfunctional thymus, so they have very few if any T cells
  • Patients develop fungal, bacterial, and viral infections typical of SCID
48
Q

What is the treatment for complete digeorge syndrome?

A

Thymic transplant

49
Q

What happens when you have a Zap-70 deficiency?

A

Can’t signal properly via ITAMs, so there’s an absence of CD8 T cells but normal numbers of non-functional CD4 T cells

50
Q

What is the treatment for ZAP-70 deficiency?

A

Bone marrow transplant

51
Q

What is APECED?

A

A deficiency of AIRE (TF that regulates expression of host-tissue specific genes by epithelial cells in the thymic medulla)

52
Q

What is IPEX?

A

Genetic deficiency of FoxP3 expression in regulatory CD4 T cells that results in early onset autoimmunity to host tissues due to a lack of Treg cell function

53
Q

How does IPEX typically present?

A
  1. Watery diarrhea
  2. Eczematous dermatitis
  3. Endocrinopathy
    - Most kids also display Coombs-positive anemia, autoimmune thrombocytopenia, autoimmune neutropenia, and tubular nephropathy
54
Q

What is the treatment for IPEX?

A

Aggressive immunosuppression and/or bone marrow transplant

55
Q

What is autoimmune lymphoproliferative syndrome (ALPS)?

A

A genetic disease characterized by lymphadenopathy and splenomegaly that results from immune cells failing to undergo apoptotic death following an immune response

  • Causes overpopulation os secondary lymphoid tissues
  • Mutation prevents expression of either Fas, FasL, or caspase 10
56
Q

What is the treatment for ALPS?

A

Immunosuppression and IVIg

Immunology Block 2 (7 decks)

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