Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Immunology Exam 2 > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

Asplenia

A

Affected gene: not known
Immune defect: absence of spleen
Susceptibility: encapsulated extracellular bacteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

C3 deficiency

A

Affected gene: C3
Immune defect: Lack of C3
Susceptibility: Recurrent infection with G- bacteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Factor I deficiency

A

Affected gene: CFI (complement factor I)
Immune defect: Absence of factor I and depletion of C3
Susceptibility: Encapsulated bacteria
- upper respiratory, ears, skin, urinary tract
- pneumonia, meningitis, sepsis
- glomerulonephritis (isolated C3 deposits), rheumatoid arthritis, lupus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Deficiencies of C5, C6, C7, C8, or C9

A

Affected gene: C5, C6, C7, C8, C9
Immune defect: Lack of complement-mediated lysis
Susceptibility: Infections due to Neisseria species

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Paroxysmal nocturnal hemoglobinuria

X-linked

A

Affected gene: Somatic and germline mutations in genes involved in phosphatidylinositol biosynthesis (gene: PIGA)
Immune defect: Lack of complement-regulatory proteins DAF, HRF, CD59
Susceptibility: Lysis of erythrocytes by complement

Treatment: Bone marrow transplant; Eculizumab (humanized anti-C5 Ab - prevent C5 activation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

Affected gene: IKBKG (NEMO, inhibitor of kB kinase gamma)
Immune defect: Impaired activation of NFkB
Susceptibility: Chronic bacterial and viral infections; developmental defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Chronic granulomatous disease

defects in phagocytic cells –> persistent bacterial infections

A

Affected gene: NOX1 (NADPH oxidase)
Immune defect: Lack of oxidative bursts. Impaired neutrophil function
Test oxidase activity with nitroblue tetrazolium (NBT) test
Susceptibility: Chronic bacterial and fungal infections
Tx: Abx, IFN gamma therapy, gene therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

MBL deficiency

A

Affected gene: MBL (mannose-binding lectin)
Immune defect: Lack of MBL
Susceptibility: Meningitis due to Neisseria meningitidis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

NK-cell deficiency

A

Affected gene: GATA2
Immune defect: Absence of NK cells
Susceptibility: Herpesvirus infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Hyper-IgM deficiency

X-linked; B cell immunodeficiency

A

Affected gene: Activation-induced cytidine deaminase (AICDA), or CD40 ligand (CD40LG), or CD40, or IKBKG
Immune defect: No isotype switching or somatic hypermutation in B cells
Susceptibility: Extracellular and Intracellular bacterial and fungal infections
Tx: Gamma globulin transfusions, Abx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

IgG2 deficiency

A

Affected gene: Not known
Immune defect: Lack of IgG2
Susceptibility: Encapsulated bacteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

SCID

A

Affected gene: Various
- ADA deficiency –> No T/B
- PNP deficiency –> No T/B
- X-linked (gamma chain def.) –> No T (bubble boy)
- Autosomal (DNA repair defect) –> No T/B
Immune defect: Absence of B-cell and T-cell function
Susceptibility: All types of infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Omenn syndrome

A

Affected gene: RAG1 or RAG2 or Artemis
Immune defect: Impaired V(D)J recombination
Susceptibility: All types of infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MHC class I deficiency (bare lymphocyte syndrome type I - BLS)

A

Affected gene: TAP1 or TAP2 or Tapasin
Immune defect: Low MHC class I expression –> no CD8 T cells
Susceptibility: (Chronic) Respiratory virus infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Pre-B-cell receptor deficiency

A

Affected gene: IGLL1 (lambda5)
Immune defect: Lack of B cells and antibodies
Susceptibility: Persistent bacterial infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

X-linked agammaglobulinemia

B cell immunodeficiency

A

Affected gene: BTK (Bruton’s tyrosine kinase)
Immune defect: B cells blocked at pro-B-cell stage (bone marrow)
Susceptibility: Recurrent bacterial infections, viruses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Complete DiGeorge syndrome (SCID)

A

Affected gene: Microdeletions in chromosomal region 22q11.2 (thymic aplasia results)
Immune defect: Absence of the thymus and T cells –> variable # of T/B cells
Susceptibility: All types of infection
Treatment: Thymus transplantation

18
Q

APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy)

A

Affected gene: AIRE (autoimmune regulator)
Immune defect: Reduced T-cell tolerance to self antigens
Susceptibility: Autoimmune diseases

19
Q

IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

A

Affected gene: FOXP3
Immune defect: Lack of regulatory T cells and peripheral tolerance
Susceptibility: Autoimmune diseases

20
Q

ZAP-70 deficiency

A

Affected gene: ZAP70
Immune defect: T cells that cannot signal through their antigen receptors
Susceptibility: All types of infection

21
Q

C4A or C4B

A

Affected gene: C4A, C4B
Immune defect: Impaired clearance of immune complexes
Susceptibility: Autoimmune diseases and infections

22
Q

Selective IgA deficiency

B cell immunodeficiency; MOST COMMON

A

Affected gene: Not known; MHC-linked
Immune defect: Lack of IgA
Susceptibility: No major susceptibility (respiratory infections)

23
Q

MHC class II deficiency (SCID) (BLS type 2)

A 
Specific abnormality: Lack of expression of MHC class II
Immune defect: No CD4 T cells
Susceptibility: General
24
Q

Describe X-linked SCID gamma chain deficiency

A

Cytokine receptor common gamma chain (or CD132) is cytokine receptor common to:

  • IL-2
  • IL-4
  • IL-7
  • IL-9
  • IL-15
  • IL-21 receptor
25
Q

Wiskott-Aldrich

B cell immunodeficiency

A

Specific abnormality: X-linked; defective WASP gene
Immune defect: Defective anti-polysaccharide antibody and impaired T cell activation responses
Susceptibility: Encapsulated extracellular bacteria

26
Q

Common variable immunodeficiency

B cell immunodeficiency

A

Specific abnormality: Unknown, MHC-linked
Immune defect: Defective IgA and IgG production
Susceptibility: Extracellular bacteria

27
Q

Phagocyte deficiencies make you susceptible to…

A

Extracellular bacteria and fungi

28
Q

Complement deficiencies make you susceptible to…

A

Extracellular bacteria, especially Neisseria species

29
Q

X-linked lymphoproliferative syndrome

other inherited immunodeficiencies

A

Specific abnormality: SH2K1A mutant
Immune defect: Inability to control B cell growth
Susceptibility: EBV-driven B cell tumors

30
Q

Ataxia telangiectasia

other inherited immunodeficiencies

A

Specific abnormality: Gene with PI 3-kinase homology
Immune defect: T cells reduced
Susceptibility: Respiratory infections

31
Q

Bloom’s syndrome

other inherited immunodeficiencies

A

Specific abnormality: Defective DNA helicase
Immune defect: T cells reduced, reduced antibody levels
Susceptibility: Respiratory infections

32
Q

Leukocyte adhesion deficiency (LAD)

defects in phagocytic cells –> persistent bacterial infections

A

Specific abnormality: CD18 subunit of CR3, CR4, LFA-1 adhesion molecules
Immune defect: Defective migration of monocytes and neutrophils; defective uptake of opsonized pathogens
Susceptibility: Widespread infection with encapsulated bacteria

33
Q

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

defects in phagocytic cells –> persistent bacterial infections

A

Specific abnormality: G6PD deficiency
Immune defect: Defective respiratory burst; phagocytes unable to kill pathogens
Susceptibility: Chronic bacterial/fungal infections; some infections induce anemia

34
Q

Myeloperoxidase deficiency (MPOD)

defects in phagocytic cells –> persistent bacterial infections

A

Specific abnormality: Myeloperoxidase deficiency
Immune defect: Defective respiratory burst; phagocytes unable to kill pathogens
Susceptibility: Chronic bacterial/fungal infections

35
Q

Chediak-Higashi syndrome (CHS)

defects in phagocytic cells –> persistent bacterial infections

A

Specific abnormality: Lysosomal trafficking regulator protein
Immune defect: Defective fusion of endosomes and lysosomes; defective phagocytosis
Susceptibility: Recurrent and persistent bacterial infections; Granulomas; damaging effects to many organs

36
Q

Complement deficiencies:

C1, C2, C3

A

Immune-complex disease

37
Q

Complement deficiencies:

C3

A

Susceptibility to capsulated bacteria

38
Q

Complement deficiencies:

C5-C9

A

Susceptibility to Neisseria

39
Q

Complement deficiencies:

Factor D, properdin (factor P)

A

Susceptibility to capsulated bacteria and Neisseria but no immune-complex disease

40
Q

Complement deficiencies:

Factor I

A

Similar effects to deficiency of C3

41
Q

Complement deficiencies:

DAF, CD59

A

Autoimmune-like conditions including paroxysmal nocturnal hemoglobinuria

42
Q

Complement deficiencies:

C1INH (C1 inhibitor)

A

Hereditary angioneurotic edema (HANE)

Low serum C4, C2 / Normal serum C3
Autosomal dominant
Increase bradykinin, decrease C4/C2
Edema of skin, GI, UG tract, larynx
Abdominal, pelvic pain and suffocation

Immunology Exam 2 (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions