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Exam 1 immuno > Primary ImmunoDeficiencies > Flashcards

Primary ImmunoDeficiencies Flashcards

(49 cards)

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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

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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

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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

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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

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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

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A

T-,B+,NK+

Normal Ig level

Tcell deficiency

Microdeletion in 22q11.2 region

Cardiac anomalies, hypocalcemia, hypoplastic thymus
undeveloped thymus

Autosomal dominant

25
Hyper IgM Syndromes (HIGM)
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
Transient Hypogammaglobulinemia of Infancy
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
Common Variable Immune Deficiency (CVID)
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
Common y Chain Deficiency (yC or IL-2Ry)
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
IL-7R alpha chain Deficiency
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
Bare Lymphocyte Syndrome type 2 (BLS II)
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
MCH Class I deficiency
Mutation in TAP 1 molecule CD4 T cells are normal CD8 cells are deficient Recurring Viral Infections Autosomal recessive
32
CD3 Complex deficiencies
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
Defect in IL-12 and IFN-y pathway
No Th1 cells Th1 doesnt produce IFN-y which leads to selective susceptibility to intracellular pathogens such as atypical mycobacteria
34
Th17 deficiency
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
IPEX (Immunodysregulation, polyendocrinopathy and enteropathy, x linked syndrome)
Self reactive T effector cells are not inhibited Mutation in FOXp3 in Treg cells
36
ALPS (Autoimmune Lymphoproliferative Syndrome)
defects in Fas, FasL, caspase-8 or caspase-10 genes which leads to resistance in effector T cell Apoptosis
37
Wiskott-Aldrich Syndrome (WAS)
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
NK cell Deficiencies (NKD)
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
Chronic Granulomatous Disease (CGD)
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
Glucose 6 phosphate Deficiency
Phagocyte disease x linked recessive Anemia Lack substrate for NADPH Asymptomatic Tendancy to form grnulomas
41
Leukocyte Adhesion Deficiency (LAD)
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
Chediak Higashi Syndrome
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
Factor H deficiency
Alternative complement pathway hemolytic uremic syndrome or glomerulonephritis
44
C1 and C4 deficiency
Systemic Lupus Erythematosus (SLE) and rheumatoid arthritis (RA) complexes arent cleared from the blood and lead to build up cause sites of inflammation
45
Deficiency in C1-Inhibitor
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
C8 complement Deficiencies
Autosomal recessive increased susceptibility to Neisserial Infections
47
Paroxysmal Nocturnal Hemolobinuria (PNH)
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
Deficiency in TLR
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
TLR 3 deficiency
Autosomal dominant increased susceptibility to HSV encephalitis

Exam 1 immuno (6 decks)

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