Flashcards in Immunology w/ DIT Deck (230):
chemotactic factors for neutrophils (4)
Il-8 and C5a, LTB4, Kallikrein
Granuloma formation -
2 cells involved and cytokines (2)
Th1 secretes in IFN gamma activating macrophages.
TNF alpha from macrophages induce and maintain ganulomas
opsonization w/ IgG
also clears immune complexes
anaphylaxis complement products
C3a and C5a
Acute inflammation mediated by what cell
Chonic inflammation medicated by what cell
Acute phase of inflammation initiated by what 3 cytokines
Granuloma formation is dependent on this cell and its secreted cytokine
Macrophage and TNF alpha
4 Steps of Leukocyte extravasation
mediated by what receptors
Rolling - E selection on endothelial cells (P selection and L selection in leukocytes)
Tight binding - ICAM1 on endothelial cells and LFA1 (integrins)on PMNs
Diapedesis - PECAM on both cells
Migration - no recptors, follow chemotactic signals
Whole process enhanced by platelet activating factor
Patient presents w. delayed separation of the umbilicus and has recurrent bacteria infections is suffering from what ?
deficient in what?
Leukocyte adhesion deficiency syndrome
deficient in integrins
cells that activate macrophages and cytokine
Th1 release IFN gamma to activate macrophages and granuloma formation
Bartenlla henslae (cat scratch fever)
Foreign body disease
C reactive phase vs sed rate
both non specific election in inflammation -
Sed rate is fibrinogen coated RBC settle faster
- > increased Sed rate (helpful in osteomyolytis) infection, inflame, CA, pregnancy, SLE, RA
- low in Sickle cell and polycythema
C reactive protein is an acute phase reactant made in the hepatocyte
Vasodialation and vascular permeabilty in inflammation due to (3)
Fibroblasts needs what to lay down collagen
Vit C needed for fibrosis
Tissue remodeling needs what dietary molecule
- done by metalloproteinases
12-24 hrs post wound see
what changes 2 days later
acute inflammation and PMN -increase vessel permeation
Macrophages come in and assess
- fibroblast, myfibroblast and endothelial cells and epithelilaization (skin and wound coverage for 28Hrs)
Remodeling of the wound occurs when and what is done
1 week after and fibroblasts change type III (granulation tissue) collagen to Type I (scar)
B cells are located where in the lymph node?
in the follicles located in the cortex - B cell localization and proliferation
T cells are located where in the lymph node
What else is located here
in the paracortex
The high endothelial venules (HEV) are also located here where T and B cells enter from the blood
What is located in the medulla of the lymph node (2)
Medullary cords - mature lymphocytes and plasma cells
Medulary sinuses w/ macrophages
What region of the lymph node expands greatly during a viral infection?
What congenital deformity inhibits this?
T cells in the PARACORTEX
DiGeorge -> lack of thymus -> lack of t cells
Functions of the lymph node?(3)
filtration w/ macrophages
storage and activation of B and T cells
secondary lymphoid organs (4)
vs primary (2)
lymph node, spleen, MALT and cutaneous lymph tissue
Thymus and bone marrow
MALT tissue is located (4)
lamnia propia of the intestine -GALT
upper airways (BALT)
nose associated lymph
Payers Patches differ from lymph nodes in that?
they are unencapsulated and located in the lamina and sub mucosa of the illiim of the smallintestine
M cells function in peters patches
flattened areas that take up antigen, transcytosis it, allows APCs to take up to the geminal centers deeper and allow IgA to be made in prevention of disease
Right lymphatic duct drains?
vs Thoracic Duct
R half of face
Drains everything else located at the L subclavian and internal jugular vein
Extremities Lymph Drainage
Lateral side of dorsum of the foot drains?
Upper limb and lateral chest
Lat foot drains to popliteal
Thigh drains to superficial inguinal
Upper limb and Lat chest drains to axilla (next is parasternal/mammary nodes)
GI Lymph drainage
Stomach drains to ?
Stomach -> celiac
Duodeum and illieum -> superior mesenteric
Sigmoid colon -> colon-> inferior mesenteric
Inguinal/Rectal lymph drainage
Rectum above the pactinate line -> internal iliac
Rectum below drains to superficial inguinal (epithelial derived)
Testes drain to pre-aortic*
- (back to where derived)
Scrotum drains superficial inguinal
Innate immune response consists of? (8)
NK cells - lymphoid derived*
Complement protein (MAC)
Adaptive immune system response consists of ? (3)
cell marker on all T cells (helper and cytotoxic)
the majority of lymphocytes in circulation (80%) are
Also refers to B cells
MHC Class I is recognized by?
- binds to?(2)
Made from what genes?
CD8 Cytotoxic T cells
- TCR and CD8
- Viral and CA immunity
HLA - A, HLA - B, HLA-C
MHC class II is recognized by
- binds to ? (2)
Made from what genes?
CD4 helper t cells
-TCR and CD4
- Extracellular antigen response
HLA - D
- DR or DP or DQ
MHC I is expressed on
All cells in the body except RBCs
MHC II is expressed on
HLA - B27 assoicated w PAIR
DM and graves and DM and RA is associated w/ what HLA type?
Dendritic cells have 4 receptors on them
MHC I - all Cells
MHC II - APC
B 7 (CD80 or 86) - co stim
CD40 - activated by T cells
Dendritic cells are located (2 locations)
Langerhorns - in the skin
interstitial dendritic cells - minus the brain
Dendritic cells sample for antigens via (3)
receptor mediated endocytosis (clathrin mediated)
Cells expired what tumor markers? (2)
tennis racket shape langerhan cell implicated in langerhan cell histiocytosis
S-100 - nueral crest cell origin
Kid presents w/ a lytic bone lesions and a skin rash - biopsy shows cells that normally express B7, CD40, MHC 1 and MHC 2 markers
What is expected on EM
langerhans cell histiocytosis - a bunch of dendritic cells that do not work
- now expressing S-100(nueral crest cell origin) and CD1a
see birbeck cells, tennis rackets on EM
Immature T cells are found where?
What do they undergo to become mature T cells
in the cortex of the thymus
Undergo + selection in the cortex and - selection in the medulla as they make their way to the medulla of the thymus
cells in the cortex of the thymus express what markers (3)
CD3, CD4 and CD8
positive selection means what for a T Cell
When CD8 and CD 4 receptors are both expressed and binding to a antigen presented by the thymic cortex leads to differentiation
CD8 selected if bound to MHCI
CD4 if bound to MHCII
Negative selection for a T cell means
in the medulla T cells that bind to tightly to self antigen are selected against for apoptosis
During a viral infection what cytokine is present in the lymph node that will lead a nieve T helper cell down a particular path?
IL12 leads to Th1 cell differentiation and further activation of Cytotoxic T cells and Macrophages through IL 2 and IFN gamma
IL 12 comes from macrophages
During an extracellular attack what cytokine released leads to a nieve helper T cell become a helpful cell in the attack
IL4 leads to Th2 differentiation and further activation of B cells through the release of IL2, IL4, IL5, and IL10
Th1 is suppressed by what cytokine
also blocks macophage activation
Th2 is suppressed by what cytokine?
also activates macrophages
IL 2 role in infection
released by both Th1 and Th2 and leads to T cell proliferation
Th1 and CD8 in cell mediated or Th2 in humoral
2 Signals needed to activate nieve T cell
1. MHC class II to TCR on CD4 Th1 or Th2
2. CD28 w/ B7 (CD80 or 86)
-leads to IL2 and monoclonal T cell proliferation
1.*MHC I if activating a CD8
and 2. CD 28 w/ B7(CD 80 or 86)
Co stimulatory factor found on T cells that are activated / B 7 (CD80 or 86) from an APC
B cell Activation signals (2)
MHC II on B cell goes to a Th2 cell and presents as APC
CD40 L on Th2 binds w/ CD40 on B cell to co-stimulate and activate the B cell
- Cytokines IL4 or IL5 class switch the B cell appropriately
Th1 secretes (2)
IL 2 - t cell prolif
IFN gamma - negative feedback on Th2 and activates macrophages
Th2 secretes (4)
IL-2 - t cell proliferation
IL 4 - class switch and + feed on Th2
IL 5 - class switch
IL10 - neg feedback on macrophage and Th1
Cytotoxic T cells kills cells by (2)
Releasing perforin and granzyme
-also done by NK cells
Binding FAS L w/ target FAS receptor
CD8 cells have a role in defense against (3)
-faulty MHC I presentations
Regulatory cells release?(2)
Gene expression and associated receptor
Anti inflammatories and IL10 and TGF beta
FOXP3 -> CD25
(also has CD3 and CD4)
NK cells activity normally is?
killing of cells w/out MHC I through perforin and granzyme
Activity enhanced by IL2, IL12, IFN beta and IFN alpha
IFN alpha and Beta in a viral infection
warns nearby cells to shut down viral producing products and up regulates MHC I expression
differs from IFN gamma
found on NK cells, macrophages, and PMNs,
Recognizes Fc component of antibodies and used in antibody dependent cell mediated cytotoxicity (ADCC) - opsonization
cell marker for NK cells
Also has CD 16
Only lymphocyte of the innate immune system?
B cell Surface Markers (8)
CD 21 - EBV
CD 40 - T cell gives permission to activate
MHC II - APC
B7 - Co-stim B activates T cell
Heavy Chain of Antibody chains in an Antibody important in determining what?
Isotype of the antibody
IgM - mu
IgA - alpha
IgE - epsilon
IgD - delta
2 ways to describe an antibody
Light Chain/Heavy chain
or Fab and Fc portion
Light chain of antibody is important in determining what?
A part of the Fab portion that leads to a unique antigenic pocket (idiotype)
2 types Kappa and lambda;
2:1 ratio normally- multiple myeloma if not
What ratio is kappa light chin suppose to be to lambda light chain?
multiple myeloma if not
example should be gamma 2 lambda 2
Fab portion of the antibody is important for?
Determining the idiotype - unique
Antibody light chain and heavy chains are held together by
di sulfide bonds
Fc portion of the antibody is important for (2)
complement binding - At Ch2 (IgM and IgG)
Determining the isotope
What initiates recombination of the V(D)J sequence
Gene sequence recognized?
Recombination Activating Gene complexes (Rag 1 and 2 ) recognize Recombination Signal Sequences (RSSs) that flank V(D)J coding sequences and result in breaks of dsDNA and antigenic uniqueness from somatic hypermutation
Mutations in RAG genes results in what
Inability to initiate antigenic reombination sequences of the VDJ sequence
Can't recognize the RSSs
Antibodies have 3 roles in the body
Obsonization - (phagocytosis)
Neutralization - (toxin or bacteria itself)
Complement activation - MAC
Fc of an antibody determines the?
Fab of an antibody determines the
Mature B cells express on their surface what Igs?
IgM and IgD
Main secondary antibody found evenly distributed in the intravascular and extrvascular pools
4 jobs of IgG
Crosses the placenta to provide passive immunity
neutralize bacterial toxin/viruses
-mediates cell mediated cytotoxicity
Antibody that crosses epithelial cells by transcytosis?
Covered by what?
Covered by secretory component,
Found in secretions (tears, saliva, mucus) and breast milk
IgA exists in 2 forms
monomer in circulation
dimer in secretion _ attached at Fc part
IgE is assocaited w/ 2 processes
1. Immunity from worms w/ activation of esinophils
2. binding to mast cells and predisposing for hypersensitivity type 1 reactions through histamine release
Antibody produced in immediate response to an antigen
Exists in 2 states
Pentomer in circulatory -> wheel (too big to cross the placenta)
monomer on surface of B cell
2 antibodies that can fix complement
IgG and IgM
B cells are encouraged to class switch with what 2 signals
Cytokine IL 4 or 5
CD 40 stim from CD40 L (T cell)
Be wary of giving the following 2 vaccines to someone with an egg allergy
Examples of live attenuated vaccines (6)
Induces what kind of response?
Polio - Sabin (oral)
Induces a cellular response w/ cytotoxic t cells - actually infects the cell and leads to memory cells
humoral immunity is induced by what type of vaccine
killed or inactivated vaccines, only elite b cell response
polio - salk (IM)
3 vaccines still recommended for HIV patients if their CD4 counts are above 200
Thymus independent antigens are?
antigens lacking a peptide component and thus cannot be presented by MHC to T cell-> NO immunologic memory, just some IgM
LPS is poslysachride and not a protein - needs to be combined w/ a protein like diphtheria to induce a cytotoxic response to gram - bacteria
What is needed of an antigen to initiate class switching of a B cell?
a protein which can presented on an MHC class II cell
-> CD 40 (b cell) and CD 40L (t cell) binding -> response
Amyloid deposited in response to a plasma cell disorder or multiple myelinoma
otherwise known as primary amyloidosis
Amyloidosis stain and responding color?
congo red stain
apple green birefringence
abnormal aggregation of proteins or their fragments into beta pleated chest structures
waxy appearance of the tissue as a result
Secondary amyloidois deposits?
AA due to accumulation of Serum associated amyloid
seen in chronic disease like Ra, IBD, spondyloarthopathy and chronic infection
Dialysis related amylodosis see?
Abeta2M deposit - kidneys don't eliminate
complaints of carpal tunnel and joint issues
Amyloid deposit seen in alzheimers?
from amyloid precursor protein (APP)
Auto IgG antibody
Rhumatoid Factor - RA
Anti citrullinated protein antibody
more specific RA marker
Drug induced SLE
Anti U1 RNP
Mixed connective tissue disease
Anti acytelcholine receptor
Anti endomysial / anti tissue transglutaminase
Primary biliary cirrhosis
Anti smooth muscle
Auto immune hepatitis
Anti glutamate decarboxylase
Graves Disease - Stim
Anti Thyriod peroxidase (anti TPO)
Hashimotos or Graves
Anti basement membrane
Wegeners - Granulomatosis w/ polyangiitis
Pauci immune crescent glomerulonephritis
Type I Hyper sens characterize by
Presensitized mast and basophil cells w/ IgE bound to them react to antigens resulting in release of histamine and brady kinins -> vasodilatation and increased permeability
Ex; wheal and flare hives and anaphylaxis
Eczema is what type of hypersensitivity
Asthma is what type of hypersensitivity?
Type II hypersensitivity is characterized by?
Antibodies (IgM and IgG) binding to fixed antigens found on cells -> cell destruction(cytotoxic) by:
-Complement mediated lysis
- Antibody dependent cell mediated cytotoxicity
Ex: ABO and Goodmans
Rheumatic fever hypersensitivity ?
Hemolytic anemia hypersensitivity ?
Graves hypersensiivity Type?
pemphigus vulgaris hypersensitivity type?
ITP immunologic thrombocytopenic purpura hypersensitivity?
Myasthenia gravis hypersensitivity Type?
Pernicious anemia hypersensitivity?
Type III hypersensitivity characterized by ?
Antibodies binding to soluble antgens in the serum and eventual deposition leading to 3 things
Activation of complement
attraction of neutrophils
local release of lysosomal products
Ex: SLE serum sickness, arthus reaction
Type III hypersensitivity where antibodies react to happens (protein bound drugs) resulting in insoluble complexes that deposit and promote local immune response - TAKES TIME
Local Type III hypersensitivity reaction where injected antigen binds to antibodies and lead to activation of complement -> necrosis, edema.
Example: Rxn to genus shot - IMMEADIATE w/in hrs vs Type 4 PPD which takes 24-48hrs
SLE hypersensitivity reaction?
Rheumatoid Arthritis hypersensitivity reaction?
Polyarthritis nodosa hypersensitivity reaction?
Streptococcal glomerulonephritis hypersensitivity reaction?
Type IV hypersensitivity reaction characterized by?
DELAYED - cell mediated T cell response to encountered antigen where cytokines (IFN gamma and IL2) are released to recruit macrophage and have local response
takes 24-48 hrs
Ex: PPD, contact dermatitis, hashimotos
Hashimotos hypersensitivity reaction?
Contact dermatitis hypersensitivity reaction?
PPD hypersensitivity reaction
Guillaiane Barrie hypersensitivity reaction?
Multiple Sclerosis hypersensitivity reaction ?
3 ways of activating the complement system
- IgG/IgM binds to C1 -> response
- Spontaneous or microbial surface -> C3
-mannose binding lectin(protein) binds to microbial surface
Complement factors making up the MAC complex,
Lack of them increases risk of?
C5b - C9
Important soluble immune components in opsonization
C3b (Binds to make tasty)
Important complement components in mediateing anaphylactic reaction
C5a (also important in chemotaxis)
It is usually the a subunit that floats away
Defect in what part of the complement system leads to hereditary angiodemema
Do not give what drug
C1 esterase inhibitor
- stops improper complement activation
-get C5a and C3a leading to anaphylactic reactions
Do not give ace inhibitors
Patient presenting w/ recurrent pyrogenic and respiratory bugs like Strep pneumo and haemophilus influenza may be deficient in what complement factor
Also at increased risk of what?
Type III hypersensitivity
Paraoxysmal nocturnal hemoglobinuria is deficient in what?
Deficient in glycospphosphatididylliosital( GPI)
-an anchoring protein
NO DAF - CD55 or CD59
- prevents the improper hemolysis through complement activation
Hams test test that may be used when patient has increased RBCs in his urine especially in the morning
Paraoxysmal nocturnal hemoglobinuria
increased lysis in the presence of acid
Deficient in CD 55/59 DAF
CD 55 and CD 59
DAF - decay accelerating protein
- blocks complement activation
Thrombosis and hemosindeinurea due to
Paraoxysmal nocturnal hemoglobinuria
Deficient CD 55/59 - DAF
T cells are found where in the spleen
in the PALS periarterial lymphatic sheath near the central arteriole in the white pulp
paracortex in lymph node PALS in spleen
Red pulp of the spleen contains
Macrophage function in the spleen (2)
Degrades broken down RBCs
phagocitizes encapsulated bate ria that have been opsonized w/ IgG and C3b
Located in the marginal zone of the white pulp
Post splenectomy see what problems in with platelets and RBCs (3)
low platelets and RBCs - thrombocytopenia due to loss of storage site
Howell jolly bodies (nuclear remnants)
CD 14 found primary where and responsible for what?
Found on macrophages
Recognizing LPS endotoxin leading to the release of IL1, IL6, and TNF alpha from the macrophage
CD 40 on macrophages sensitize it to IFN gamma
Various jobs of the macrophages (6)
1. present antigen
2. phagocitize bacteria
3. Phagocitize cell debris, clean up wounds (RBCs)
4. Form multinuclear giant cells in grnaulomas
5. respond to obsinized bacteria
6. Generate free radices using NADPH oxidase
Granulocytes refer to what 4 cells
Basophils - found in blood
Mast cells - found in tissue
Acute interstitial nephritis
Adrenal insufficiency (Addisons)
Collagen vascular disease (PAN, dermatomyolitis)
leave the bone marrow to become mature in 8 hrs aftr migration to target
Joints - A cells
Blood.alveoli/intestines - macrophages
Connective tissue - histiocytes
Liver - kupfer cells
Kidney - mesangial cells
brain - microglial
bone - osteoclasts
Connective tissue monocyte
prevent mast cell degranulation
- old asthma medication needed 3-4x a day
Cytokines released by macrophages(5)
IL8 -> chemotaxic PMN
IL12 -> Th1
Cytokines released by T cells(6)
-IL2 - T cell prof
- IL3 ~GM-CSF
-IL4 -> IgE and IgG in B cells
-IL5 -> IgA and eosinophils
-IL10 -> inhibits Mo and Th1
Cytokine involved in the growth and activation of eosinophils
IL 5 from Th2
Pyrogens secreted by monocytes and macrophages
IL 1 and IL6
Cytokine that mediates septic shock
TNF alpha from macrophage -> leukocyte recruitment and vascular permeability
Acute phase cytokines mediating inflammation
IL 1, IL 6, TNF alpha from macrophages
Enhances synthesis of IgA cytokine
Enhances synthesis of IgE and IgG cytokine
Cytokines released by viral infected cells
IFN alpha and beta
Cytokine that supports bone marrow stem cells
Cytokine that supports T cell proliferation, differentiation and activation
IFN Alpha and beta encourages what cells to do what
uninfected cells near viral infected cells
encourages activation of ribonuclease that inhibits viral synthesis by degrading viral mRNA
IFN gamma leads to(2)
Increased MHC I and II expression
activates NK cells and macrophages
released by viral infected cells and Macrophages
Hyperacute transplant rejection occurs how quick?
Due to Type II hypersensitivity reaction due to preformed antibodies present in the serum of the recipient -> occluded graft vessels (necrosis and ischemia)
Acute transplant rejection occurs how quick
Occurs w/in 1st 3 months
Mediated by type IV hypersensitivity reaction - cell mediated response to the foreign MHCI -> vasculitis of graft vessels (complement activation)
Chronic transplant occurs how quick?
Within months to years
Mediated by recognition of MHC I (non self receptors) as MHC I (self) presenting foreign antigens
-mix of cell mediated and antibody
Irreversible damage and fibrosis seen w. vascular damage
Pathogenesis of graft vs Host disease
Occurs when you transplant immune competent tissue into an immune compromised patient and the donated material reacts against the host
Presents as maculopapular rash(neck, shoulder ears and palms); hepatosplenomegaly; GI distress; hemolysis/jaundice
2 immune sup presents that work by blocking blocking Calcineurin
What does blocking ultimately do?
-binds to cyclophilin to make a complex
-binds to FK binding protein to make a complex
Both end up blocking the production of IL2
Known immunosupressant w/ nephrotoxicity(2)
associated side effect for both?
HTN w/ decreased blood flow to the kidneys
Immunosuppresent that inhibits mTOR by binding to what that has a noted feature of NO nephrotoxicity
Binds to FKBP12
->inhibits T cell response to IL2
Which drug has increased adverse side effects when given w/ Allopurinol?
a 6 mercaptopurine precursor
Both drugs are metabolized by xanthine oxidase
Toxicity of azathioprine
Bone marrow suppression
- by excessive blocking of synthesis of nucleic acids (purine anti metabolite)
Autoimmune antibody that binds to CD3
especially useful for?
immune suppression post renal transplant
Antibody that binds to IL 2 and blocking signal down steam -> decreased immune response
Immune suppressor w/ increased lymphoma risk and has congenital defects w/ miscarriage risk as a list of side effects
- inosine monophosphate dehydrogenase inhibitor blocking the creation of guanine
Immune supresor w/ history of phocomelia (severe both defects) and acts by blocking TNF alpha
- immune suppression
Immuneosuppressent that binds to CD25
CD 25 is IL 2 Receptor in activated T cells
Drugs used in lupus nephritis
X linked immune deficiency Disorders (4)
Wiskott aldrich syndrome
+/- Chronic grammulomatos Disease
+/- SCID (most common)
Patient presents w. recurrent bacterial infection 7 months after being born. No immunoglobulins noted
Defect due to absent?
X linked agammaglobulinemia
- Defect in BTK - a tyrosine kinase gene leading to no B cell Maturation
Xlinked defect in tyrosine kinase gene
-Recurrent bacterial infections
-post 6 months
- Low Ig of ALL clases
Patient presents w/ recurrent sinusitis and pneumonia. Other than that the patient is fine
Be worried of what major complication
Selective IgA deficiency
- most common primary immunodeficiency
-Normal IgM, IgG
Be worried of anaphylaxis when given blood products w/ IgA
IgA is more commonly asymptomatice but more commonly seen w/ what disorders
Atopic and asthma w/ elevated IgE maybe
Presents w/ recurrent pulmonary infections (mucosal infections)
Anyphylaxis to IgA containing blood products
Patient has a history of viral/fungal and protozoa infections w/ congenital heart defects.
What also may be low in the patient?
Low calcium in DeGeorges syndrome due to failure of Pouches 3 and 4 to develop
Tetrology of Fallot and transposition of great vessels may be seen
Digeorges syndrome presents immune deficiency due to lack of what cell type?
Predisposed to what infections
Thymus is gone -> no T cells
At risk for viral, proposal and fungal infections
Patients that are at increased risk for mycobacterial infection due to this inherited immune defect?
IL12 receptor deficiency
-> low Th1 response -> low IFN gamma -> low granuloma formation
Patient presents w/ recurrent Candidiasis infection due to a congenital deficiency called?
defect is in what cell?
Chronic mucocutaneous deficiency
Defect in T cell, give ketoconazole
Patient presents w/ failure to thrive, chronic diarrhea and recurrent bacterial, viral, protozoa and fungal infections due to?
What is the primary defect?
SCID - severe combined immunodeficiency
Primary defect is usually Auto Recessive mutation which is adenosine deaminase deficiency -> toxic metabolite build up for T cells
Can also be X linked defect in IL2
Absence of a thymic shadow may be seen in 2 immune deficiency states
NO B or T cells are found in this disorder and NK cells are the only remaining response
Patient presents w/ gait disturbance and lack of smooth tracking movement w/ eyes and also recurrent sinopulmonary infection?
Increased risk for?
- see also telangiectasia
Risk of lymphoma and leukemia
- due to ATM defects which code for DNA repair mech- Don't X ray
Ataxia telangictasia triad
1. Ataxia (cerebellar defects, smooth eye movement)
2. telangiectasia - on the face >5
3. IgA deficiency
Due to ATM mutation which codes for DNA repair (lymphoma risk) - Also have increased AFP
Increased AFP after 8 months seen in this IgA deficiency disease
Defect seen w/ X linked associated damage to CD40L on helper T cells leads to
Hyper IgM syndrome
-Low IgG, IgA, IgE
Can also be due to AR CD 40 absent on B cells
Severe pyrogenic infections and lack of lasting immunity due to no class switching can be due to
Lack of CD40 L function in Hyper IgM syndrome
Wiskott Aldrich syndrome presents w?(3)
Thrombocytopenia w/ Purpura
Eczema - on trunk
recurrent pyrogenic infections(decreased IgM compared to IgA against capsular polysachraides)
X linked Defect in WAS gene -> unable to reorganize actin skeleton
Recurrent pyrogenic infections and persistent itchy rash on the trunk can be due to?
Amy see what with blood drawn?
Thrombocytopenia w/ purpura *
Eczema - trunk
Recurrent pyrogenic infections (low IgM, higher IgA)
Defect in CD 18 leads to what primary immunodeficiency?
Leukocyte adhesion deficiency
Presents ad recurrent bacterial infections W/OUT pus formation
Lack of LFA 1 integrins to mediate leukocyte transmigration - Neutrophilia in the blood
Delayed separation of the cord may indicate what future problems for the infant
Lack of CD18, LFA1 integrin leading to Leukocyte adhesion deficiency
Recurrent bacterial infections
large lysosomal vesicles in phagocytes
Chediak Higashi syndrome
- defect in lysosomal tracking leading to lack of phagosome lysosome fusion
lysosomal regulator gene LYST defective -> microtubule dysfunction
Triad of partial albinism and peripheral neuropathy(ataxia or seizures) may hint at what primary immune deficiency?
Primary defect in that deficiency
Chediak Higashi syndrome
Microtubule dysfunciton in phagosome and lysosome fusion
- Auto recessive
What is missing in chronic granulomatous disease?
NADPH oxidase which leads to the formation of ROS for destruction w/ respiratory oxidative burst
Recurrent infections w/ catalase + infections seen (S aureus, E coli, Klebsiella, Aspergillus, Candidia, Salmonella)