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Exam 1 immuno > Primary ImmunoDeficiencies > Flashcards

Primary ImmunoDeficiencies Flashcards

1
Q

Histopathology and laboratory abnormalities of: B Cell Deficiencies

A

Often absent or reduced Follicles and germinal centers in Lymphoid organs

Reduced serum Ig Levels

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2
Q

Histopathology and laboratory abnormalities of: T cell deficiencies

A

Reduced T cell zones in lymphoid organs

Reduced DTH to common antigens

Defective T cell proliferative responses to mitogens in vitro

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3
Q

Warning signs of Immunodeficiency Disorder

A

Eight or more ear infectionsin one year.•
Two or moreserious sinus infectionsin one year.•
Two or more bouts of pneumoniain one year.•
Two or more deep-seated infections, or infections in unusual areas.•
Recurrentdeep skin or organ abscesses.•
Needfor iv antibiotic therapyto clear infection.•
Infectionswith unusual or opportunistic organisms.•
Family history of primaryimmunodeficiency.

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4
Q

Recurrent Sinopulmonary Bacterial infections

A

screen Humoral Immunity

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5
Q

Recurrent Viral or fungal infections

A

Screen Cellular Immunity

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6
Q

Recurrent skin abscesses or fungal infections

A

Screen Phagocyte defect

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7
Q

Bacteremia or meningitis with encapsulated bacteria?

A

Screen for complement deficiency

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8
Q

Testing for PID: Differential CBC

A

T cell, B-cell T/B cell defects

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9
Q

Testing for PID: DTH skin Test

A

T cell defects

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10
Q

Testing for PID: Serum IgG, IgM, IgA

A

Hummoral immunodeficiency

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11
Q

Testing for PID: Ab testing to specific Ag after immunization

A

Humoral immunodeficiency

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12
Q

Testing for PID: Total Hemolytic complement assay

A

Complement deficiency

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13
Q

Testing for PID: Nitroblue tetrazolium test

A

Phagocytic disorder

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14
Q

Adenosine Deaminase Deficiency (ADA)

A

SCID disease

happens after the progenitor cells

T-,B-,NK-

Low Igs

Autosomal Recessive

Metabolic function of T-cells due to an accumulation of toxic deoxyadenosine

Avoid all live Viral Vaccines

treatment HSCT

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15
Q

Characteristics of SCID diseases

A

Defficiencies in both T cell and B cells

Severe lymphopenia

Severe opportunistic infections

Chronic diarrhea and failure to thrive

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16
Q

Purine Nucleoside Phosphorylase (PNP) deficiency

A

T-,B-,NK+/-

Exception to SCID

SCID

Normal Ig levels

Autosomal recessive

SCID disease

Accumulation of intracellular deoxyguanosine triphosphate (dGTP)

decrease in peripheral T cells

Early neuro disorders, hemolytic anemia, thyroid disease, arthritis, and lupus

treatment HSCT

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17
Q

Artemis Deficiency

A

T-,B-,NK+

SCID

Low Ig levels

Autosomal recessive and radiosensitive

Artemis important in repairing VDJ rearrangement double strand breaks

diarrhea candidiasis and pneumocystis jiroveci pneumonia

treatment HSCT

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18
Q

RAG1/RAG2 deficiency

A

T-,B-,NK+

SCID

Low Ig levels

Autosomal Recessive

Impaired VDJ recombination and leads to defects of the pre-TCR and pre-BCR

diarrhea, candidiasis, pneumocytis jiroveci pneumonia

treatment HSCT

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19
Q

OMENN syndrome

A

lesser version of RAG1/RAG2 deficiency because has partial function

Severe erythoderma, splenomegaly, eosinophilia, high IgE

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20
Q

Deficiency of Jak3

A

T-,B+,NK-

Form of SCID

low Ig levels

Autosomal Recessive

Defect in IL-2 receptor signaling

Mutation in Janus Kinase 3

treatment HSCT

21
Q

X linked Btk Kinase Deficiency

A

T+,B-,NK+

No Igs

Defect in rearrangement of the Ig heavy chains

IgG IgA and IgM are absent or very low

Affects pre-B cell so stuck in Pre-B cell

22
Q

Isolated IgG subclass Deficiencies

A

T+,B+,NK+

IgG sublcass very low
normmal IgM and IgA

Defect in several genes

increase in IgG4 which is none in healthy people

Asymptomatic but recurring viral/bacterial infections in respiratory tract

Low IgG2 and poor responses to polysaccharide Ags

Autosomal recessive

23
Q

IgA Deficiency

A

T+,B+,NK+

No IgA but everything else is normal

Happens in the periphery affecting IgA secreting plasma cells

recurrent infections via encapsulated bacteria

If given a IVIG can have Anaphylaxis due to anti-IgA IgG in the body

Autosomal higher in male

24
Q

Digerorge Syndrome

A

T-,B+,NK+

Normal Ig level

Tcell deficiency

Microdeletion in 22q11.2 region

Cardiac anomalies, hypocalcemia, hypoplastic thymus
undeveloped thymus

Autosomal dominant

25
Q

Hyper IgM Syndromes (HIGM)

A

T+,B-+NK+

group of diseases characterized by impaired Ig class switching and somatic hypermutation

Normal number of peripheral B cells and low numbers of CD27-positive memory B cells

High IgM and low IgG and IgA

X linked recessive for 2/3 on CD40L

Autosomal CD40 on B cell deficiency 1/3 cases

mutation in the CD40L gene

26
Q

Transient Hypogammaglobulinemia of Infancy

A

T+,B+,NK+

Low IgG/IgA and IgM is normal

Intrinsic IgG production delayed for up to 36 months

Normal after 2-4 years

Increased susceptibility to sinopulmonary infections

27
Q

Common Variable Immune Deficiency (CVID)

A

T+,B+/-,NK+

Defect in Ab production associated with hypogammaglobulinemia

recurring pyogenic sinopulmonary infections

Number of B cells are normal but cant mature and differentiate into plasma B cells

Autosomal Recessive

Low IgA and IgG and sometimes IgM

Heterogeneous group of diseases

28
Q

Common y Chain Deficiency (yC or IL-2Ry)

A

SCID

T-,B+,NK-

Very Low Igs but has IgM

X linked Recessive

Growth factors for Gamma Chain is mutated

issue with IL-2Ry

No functional B cells since T cells unable to help

Failure to thrive, severe thrush, oppurtunistic infections and chronci diarrhea

treatment HSCT

29
Q

IL-7R alpha chain Deficiency

A

T-,B+,NK+

SCID

Very low Igs but have some IgM

Autosomal Recessive

Key role in early T cell development

Candidiasis, chronic diarrhea, Pneumocytstis Jiroveci pneumonia, severe viral infections

treatment HSCT

30
Q

Bare Lymphocyte Syndrome type 2 (BLS II)

A

CD4 T-, CD8 T+,B+,NK-

Autosomal Recessive

no MHC class II expression on proffessional APCs

Mutations for transcription factors that regulate MHC II genes

Variable HypoGammaglobulinemia (IgA and IgG2

death and recurrent infections

treatment HSCT

31
Q

MCH Class I deficiency

A

Mutation in TAP 1 molecule

CD4 T cells are normal

CD8 cells are deficient

Recurring Viral Infections

Autosomal recessive

32
Q

CD3 Complex deficiencies

A

T-,B+,NK+

Low Igs usua;;y normal

Deficiency in the CD3 subuntits(delta gamma epsilon and zeta)

Autosomal recessive form of SCID

Decreased T cell numbers and lymphopenia

failure to thrive, oppurtunistic infections. chronic diarrhea

HSCT

no live vaccines

33
Q

Defect in IL-12 and IFN-y pathway

A

No Th1 cells

Th1 doesnt produce IFN-y which leads to selective susceptibility to intracellular pathogens
such as atypical mycobacteria

34
Q

Th17 deficiency

A

Mutatons in genes encoding for IL-17 and IL-17R, or transcriptional factors STAT1, STAT3, and AIRE

Unusual susceptibility to chronic mucocutaneous candidiasis

Hyper IgE syndrome

35
Q

IPEX (Immunodysregulation, polyendocrinopathy and enteropathy, x linked syndrome)

A

Self reactive T effector cells are not inhibited

Mutation in FOXp3 in Treg cells

36
Q

ALPS (Autoimmune Lymphoproliferative Syndrome)

A

defects in Fas, FasL, caspase-8 or caspase-10 genes which leads to resistance in effector T cell Apoptosis

37
Q

Wiskott-Aldrich Syndrome (WAS)

A

T-,B+,NK+

Low IgM, normal Ig, Elevated IgA and IgE

X linked Disorder

Mutation in the Wiskott-Aldrich Syndrome Protein (WASP)

T cell lymphonia

Decreased effectiveness of NK cell but not number

thrombocytopenia, eczema, cellular and humoral immunodeficiency, autoimmune disease, and malignancy.

Recurring encapsulated Bacteria

38
Q

NK cell Deficiencies (NKD)

A

Present with multiple servere or disseminated viral infections
Mutations in Multiple genes

NK cells must represent the major immunologic abnormality of the patient

Classical (CNKD): GATA2, lack of NK cells

Functional (FNKD): Perforin deficiency

39
Q

Chronic Granulomatous Disease (CGD)

A

Phagocytic disorder that forms granulomas

Enzyme deficiency in NADPH oxidase

Fail to generate superoxide and O2 radicals

recurring infection with catalase positive organisims (staphylococci)

40
Q

Glucose 6 phosphate Deficiency

A

Phagocyte disease

x linked recessive

Anemia

Lack substrate for NADPH

Asymptomatic

Tendancy to form grnulomas

41
Q

Leukocyte Adhesion Deficiency (LAD)

A

Neutrophil count twice as normal

recurrent infections of the oral, genitalia, skin, intestine, and respiratory tract

Defect in Adhesion on LAD integrins

Mutation in B2 integrins

affects CD11 and CD18

Slow wound healing
failure to fform pus
delayed detachment of the umbilical cord
severe bacterial infections
early death
42
Q

Chediak Higashi Syndrome

A

Autosomal Recessive disorder

wheelchair bound

abnormal giant granules that dont contain Cathepsin G and elastase

affects chemotaxis and degranulation

Azurophilic giant cytoplasmic inclusions
partial Albinism

2 phases:

  • infections
  • Lymphoproliferative syndrome and hepatosplenomegaly

No NK activity

43
Q

Factor H deficiency

A

Alternative complement pathway

hemolytic uremic syndrome

or glomerulonephritis

44
Q

C1 and C4 deficiency

A

Systemic Lupus Erythematosus (SLE) and rheumatoid arthritis (RA)

complexes arent cleared from the blood and lead to build up cause sites of inflammation

45
Q

Deficiency in C1-Inhibitor

A

Hereditary Angioedema (HAE)

Recurrent swelling in the extremities, face, lips, larynx, and GI tract

over activation of CP pathway and swelling due to inabillity to stop the kinin generating pathway

production of bradykinin which leads to vaso dilation

46
Q

C8 complement Deficiencies

A

Autosomal recessive

increased susceptibility to Neisserial Infections

47
Q

Paroxysmal Nocturnal Hemolobinuria (PNH)

A

Failure to regulate MAC complex

Somatic mutation that causes a deficiency in gycosylphosphatidylinositol (GPI)

important to anchor down DAF (CD55) and CD59

causes intravascular hemolysis

48
Q

Deficiency in TLR

A

Myd88 deficiency results in impaired signaling except for TLR3

sever infections caused by pyogenic bacteria

normal resistance to other common bacteria, fungus and viruses

Patients lack fecers due to low amounts of TNF-a, IL-1, and IL-6

49
Q

TLR 3 deficiency

A

Autosomal dominant

increased susceptibility to HSV encephalitis

Exam 1 immuno (6 decks)

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