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Diseases- Ari > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

What PID caused defective production of ROSs?

A

NADPH Oxidase defect in Chronic Granulomatous Disease (CGD)

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2
Q

What cell makes ROS involved in chronic granulomatous disease?

A

Phagocytes

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3
Q

What PID is associated with absent or deficient expression of B2-integrins?

A

LAD-1

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4
Q

What is B2-integrin important for?

A

Leukocyte adhesion

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5
Q

What PID is caused by absent or deficient expression of leukocyte ligands for endothelial E and P-selectins causing failure of MIGRATION of leukocytes from blood into tissue?

A

LAD-2

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6
Q

What complement disease is caused by a defect in the complement cascade activation?

A

Complement C3 Deficiency

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7
Q

Complement C2 and C4 deficiency is related to which pathway?

A

Classical Complement Pathway

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8
Q

What disease is associated with failure to clear immune complexes and defective granule function in NK cells?

A

SLE

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9
Q

What disease is caused by defective lysosomal function in neutrophils, macrophages, and dendritic cells?

A

Chédiak-Higashi Syndrome

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10
Q

What is commonly seen with a problem in macrophage phagocytosis?

A

Abscesses

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11
Q

Defective lysosomal storage can be caused by…

A

Dysfunctional microtubules

Dysfunctional phagocytosis

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12
Q

What is the inheritance pattern of CGD?

A

x-linked and autosomal recessive

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13
Q

What is the inheritance pattern of Chediak-Higashi?

A

Autosomal recessive

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14
Q

What is the inheritance pattern of LAD-1

A

Autosomal recessive

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15
Q

What is the inheritance pattern of the classical pathway?

A

autosomal recessive

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16
Q

What is the inheritance pattern of Bruton’s XLA?

A

x-linked

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17
Q

What is the inheritance pattern of Wiskott-Aldrich?

A

x-linked

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18
Q

What is the inheritance pattern of Hyper IgE (Job Syndrome)?

A

autosomal dominant

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19
Q

Abscess with granulomas

A

CGD

20
Q

Albinism

A

Chediak-Higashi

21
Q

Delayed separation of umbilical cord, poor wound healing, and high neutrophils in blood

A

LAD

22
Q

Low or absent IgA

A

IgA deficiency

23
Q

Thrombocytopenia, infection, eczema (TIE)

A

Wiskott-Aldrich

24
Q

elevated IgM and low IgA and IgE

A

Hyper IgM Syndrome

25
Q

Absent B-cells and low Ab

A

Bruton’s XLA

26
Q

SCIDs are associated with a defect in…

A

B and T cell development

27
Q

The most common SCID is…

A

Common-gamma chain –> lack of IL-7, IL-12, etc

28
Q

The second most common SCID is associated with…

A

ADA deficiency

Adenosine deaminase

29
Q

What SCID is related to cytoskeletal deficiency leading to poor uptake by dendritic cells and other APCs?

A

Wiskott-Aldrich

30
Q

What is the deficiency associated with x-linked SCID?

A

cytokine receptor commom gamma chain mutation that leads to defective T-cell maturation due to lack of IL-7

31
Q

Autosomal recessive SCID due to ADA or PNP deficiency leads to…

A

progressive decrease in B and T cells

More T0cells

In ADA- reduced Ig

In PNP- normal B-cells and serum Ig

32
Q

ADA and PNP deficiency causes…

A

accumulation of toxic metabolites in lymphocytes

33
Q

X-linked agammaglobulinemia

A

decrease of all serum Ig isotypes due to reduced B-cell numbers

34
Q

DiGeorge Syndrome

A

decreased Tcells

normal Bcells

35
Q

DiGeorge Syndrome is caused by

A

improper formation of the 3rd and 4th pharyngeal pouches which are important for thymus production

36
Q

Hypocalcemia is seen in…

A

DiGeorge

37
Q

Mutation in CD40 ligand leads to…

A

Hyper IgM Syndrome

38
Q

CVID is associated with

A

Mutations in the receptor for B cell growth factors and stimulators

39
Q

TAP1, TAP2, tapasin

A

MHC I expression defect

40
Q

Bare Lymphocyte Syndrome

A

MHC II expression defect

41
Q

Deficiency/defect in CD3 and ZAP70

A

Defective T-cell signaling

42
Q

In defective CD3 and ZAP70 you see… what change in T-cells?

A

Normal T-cell number

Defective signaling

43
Q

DiGeorge Syndrome is a mutation in…

A

Tbox-1 and FoxN1 genes

44
Q

thymic aplasia is associated with…

A

DiGeorge Syndrome

45
Q

What mutations are associated with VDJ recombination?

A

RAG 1, RAG 2, and Artemis

46
Q

CD19 is seen on what cell?

A

B-cells

47
Q

Mutations in CD40ligand, CD40 receptor, and AID is associated with…

A

Hyper IgM Syndrome

Diseases- Ari (4 decks)

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