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Immunodeficiencies Flashcards

1
Q

B cell disorders

A 
Bruton Agammglobulinemia (X-linked)
Selective IgA deficiency
Common Variable Immunodeficiency
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2
Q

Bruton agammaglobulinemia- defect

A

X-linked

Defect in BTK (tyrosine kinase): prevent B cell maturation

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3
Q

Bruton agamma- S&S

A

Recurrent bacterial (and enteroviral) infections (after 6 mo- when mom’s IgG is depleted)

Absent, scanty lymph nodes

Decreased level of all Igs

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4
Q

Selective IgA deficiency- defect

A

Unknown, but most common primary immunodef

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5
Q

Selective IgA def- S&S

5 A’s

A

Recurrent mucosal infections (GI- Giardia)

Majority Asymptomatic, but may affect Airways, Anaphylaxis (with blood transfusion), Autoimmune dz, Atopy (allergy- e.g. eczema, rhinitis, asthma)

Decreased level of IgA

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6
Q

Combined Variable Immunodeficiency- defect

A

Lots of causes; defect in B-cell differentiation

Causes decreased Igs and plasma cells

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7
Q

CVID- S&S

A

Can be acquired; often see in 20s-30s

Increased risk of autoimmune diseases (despite the decrease in Igs), lymphoma, bronchiectasis, and sinopulmonary infections

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8
Q

T cell disorders

A

Thymic aplasia (diGeorge)
IL-12 receptor deficiency
Hyper-IgE (Job) Syndrome
Chronic mucocutaneous candidiasis

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9
Q

Thymic aplasia (diGeorge)

A

Failure of “Thyrd” and 4th pharyngeal pouches to develop (causes lack of thymus and parathyroids) –> absent thymic shadow (also seen in SCID)

Underlying chr 22q11 deletion (detected by FISH)

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10
Q

Thymic aplasia- S&S

A

Recurrent viral/fungal infections
Decreased T-cells, PTH, and Ca2+

Other S&S: tetany (hypocalcemia), conotruncal abnormalities (tetrallogy of Fallot, truncus arteriosus),

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11
Q

IL-12 receptor deficiency- defect

A

Decreased Th1 response (also have decreased IFN gamma- normally produced by Th1 cells to activate macrophages)
Autosomal recessive

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12
Q

IL12-receptor deficiency- S&S

A

Disseminated mycobacterial and fungal infections (may present after BCG vaccine)

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13
Q

Hyper-IgE (Job) Syndrome- defect

A

Deficiency of Th17 (due to mutation in STAT3) –> impairs neutrophil/ macrophage recruitment to infection site (because can’t produce proper cytokines like IFN-gamma)

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14
Q

Hyper-IgE (Job) Syndrome- S&S (FATED)

A 
Any kid (girl/boy) w/: FATED
Facies (coarse)
Abscesses (staphylococcal)
Teeth (retained)
E- increased IgE
Dermatologic probs (Eczema)
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15
Q

Chronic mucocutaneous candidiasis-defect and S&S

A

T-cell dysfunction (many causes) –> absent T cell response to Candida antigens

Non-invasive Candida infection (in mucosa and skin)

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16
Q

B cell and T cell disorders

A

SCID (severe combined immunodeficiency)
Ataxia-Telangiectasia
Hyper-IgM
Wiskott-Aldrich

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17
Q

SCID- defect

A

Many causes, but two main mutations:
IL-2R gamma chain deficiency (X-linked)
Adenosine Deaminase deficiency (AR)

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18
Q

SCID- S&S

A 
Recurrent infections (bacterial, viral, fungal, and protazoal)
Failure to thrive, chronic diarrhea, thrush
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19
Q

SCID- dx

A

Absent thymic shadow (also seen in diGeorge)
Absent germinal centers (lymph node biopsy)
Absent T cells (flow cytometry)
Decreased T cell receptor excision circles (indicate maturation of T cells)

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20
Q

SCID- tx

A

Bone marrow transplant (no concerns about potential graft rejection by host- because there are no B/T cells)

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21
Q

Ataxia-telangiectasia- deficit

A

Mutation in ATM gene –> failure to repair dsDNA breaks –> causes cell-cycle arrest

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22
Q

Ataxia-telangiectasia- S&S

A

Triad: Ataxia (cerebellar Atrophy), spider Angiomas, IgA (and IgG and IgE) deficiency (recurrent mucosal infections)

Hypersensitivity to ionizing radiation

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23
Q

Ataxia-telangiectasia- lab findings

A

Increase AFP
Decreased IgA, IgG, and IgE (impaired isotope switching)
Lymphopenia

24
Q

Hyper-IgM syndrome- deficitis

A 
Defective CD40L ligand on T cells (impairs isotype class switching)
X-linked recessive (as opposed to hyper IgE --> which is AD)
25
Hyper IgM- S&S
Severe pyogenic infections in early life; opportunistic infections (Pneumocystis, Cryptosporidium, CMV) Normal or increased IgM Very low IgA, IgE, and IgG (lower than Ig levels in Ataxia-Telangiectasia)
26
Wiskott-Aldrich syndrome- deficits
Mutation in WAS gene --> T cells unable to reorganize actin cytoskeleton X-linked recessive
27
Wiskott-Aldrich- S&S
Male with (WA)TER: Thrombocytopenia Eczema Recurrent infections (pyogenic- pus) Increased risk of malignancy and autoimmune disease Distinguish from hyper-IgE due to male in Wiskott-Aldrich (XR) vs. females can also get hyper-IgE (AD); also thrombocytopenia only seen in Wiskott-Aldrich
28
Wiskott-Aldrich- Findings
Decreased/normal IgG and IgM Increased IgE and IgA Fewer and smaller platelets
29
Phagocyte dysfunction
Leukocyte adhesion deficiency Chediak-Higashi Chronic granulomatous disease
30
Leukocyte adhesion (LAD) deficiency (type 1)- deficit
Due to deficiency in LFA-1 integrins (CD18) on phagocytes; impaired migration and chemotaxis AR
31
LAD type 1- S&S
Recurrent bacterial skin and mucosal infections Absent pus formation (requires neutrophils to consolidate) Impaired wound healing and delayed separation of umbilical cord
32
LAD- lab findings
Increased neutrophils, but absent at infection sites (can detect via flow cytometry to find CD 18)
33
Chediak-Higashi syndrome- deficits
Defect in lysosomal trafficking regulator gene (LYST) Causes microtubule dysfunction in phagosome-lysosome fusion (AR) --> lysosome emptying defect
34
Chediak-Higashi syndrome- S&S
ALBINO + recurrent infections + neuro probs Recurrent pyogenic infections by staphylococci and streptococci Partial ALBINISM Peripheral neuropathy Progressive neurodegeneration Infiltrative lymphohistiocytosis May present with oral ulcers and gingivitis
35
Chediak-Higashi syndrome- lab findings
``` Giant granules (in granulocytes and platelets) Pancytopenia Mild coagulation defects ```
36
CGD- defects
Mutation in NADPH oxidase (XR) --> prevents the formation of superoxides (specifically oxygen radical) Impaired respiratory burst Increase risk of infection with catalase + organisms because with other bacteria, neutrophils can use bacterial peroxides to generate ROS (thereby bypassing the first step of converting oxygen to an oxygen radical), but for bacteria that have catalase, that peroxide is converted to water, so host phagocytes (e.g. neutrophils) cannot generate the superoxide (HClO- dot) to kill bacteria.
37
CGD- S&S
Recurrent infection with catalase + organisms: N- PLACES ``` Nocardia Pseudomonas A. Listeria Aspergillus Candida E. coli Serratia, staphylococci B. cepacia H. pylori ```
38
CGD- diagnosis
Abnormal dihydrorhodamine (low fluorescence) or negativenitroblue tetrazolium test --> indicates that ROS are not being formed
39
Bacterial infections in T-cell deficiency
Sepsis
40
Bacterial infections in B-cell deficiency
Please SHINE my SKiS (encapsulated) ``` Pseudomonas A Strep pneumo H. influenzae Neisseria meningitis E. coli Salmonella Klebsiella Strep ```
41
Bacterial infections in granulocyte deficiency
``` Staphylococcus B cepacia P aeruginosa Serratia Nocardia ```
42
Bacterial infections in decreased complement
Encapsulated species (for early complement deficiencies) Neisseria (with MAC/ late complement deficiencies)
43
Viral infections in T cell deficiencies
CMV, EBV, JCV, VZV, chronic respiratory/GI viruses
44
Viral infections in B cell deficiencies
Enteroviral encephalitis, poliovirus (live vaccine is contraindicated)
45
Fungi/parasites in T cell deficiencies
Candida (local), PCP
46
Fungi/parasites in B cell deficiencies
GI giardiasis (no IgA)
47
Fungi/parasites in granulocyte deficiencies
Candida | Aspergillus
48
General trend: B vs. T cell deficiencies
B cell deficiencies: Produce more recurrent infections | T cell deficiencies: Produce more fungal and viral infections
49
Autograft
from self (most effective; e.g. for Hodgkin Lymphoma)
50
Syngeneic (isograft)
from identical twin/ clone
51
Allograft
from non-identical individual of the same species
52
Xenograft
from different species
53
Hyperracute transplant rejection
Type II HS; activate complement (within minutes) Preformed antibodies reject donor tissue/ cells Thrombosis of graft vessels --> ischemia/ necrosis Requires graft removal
54
Acute transplant rejection
Type II and Type IV (CD8 T cells) HS reactions: (within weeks to months) Gradual accumulation of antibodies and/ or cytotoxic T-cells against donor tissue/ MHCs Vasculitis with DENSE INTERSTITIAL LYMPHOCYTE infiltrate Tx: prevent/ reverse with immunosuppressants
55
Chronic
Type II and Type IV (with CD 4 T cells): within months to years Gradual accumulation of helper T cells against donor MHCs Recipient T cells react and secrete cytokines Histology: SCANT INFLAMMATORY CELLS AND INTERSITIAL FIBROSIS, proliferation of vascular smooth muscle; dominated by arteriosclerosis (e.g vanishing bile duct syndrome)
56
Graft vs. host disease
"Graft rejects host" Graft T cells invade the host tissue and cause several organ dysfunction via Type IV HS reaction Usually occurs with BMTs and liver transplants; causes maculopapular rash, jaundice, diarrhea, and HSM Potentially beneficial in BMT for leukemia (where donor cells kill the leukemia/ tumor cells)

Immunology (7 decks)

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