L 22 Flashcards by Logan Kolakowski

What are primary immuno-def?

Inherited!

Many won’t survive to term

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If you damage this immune cell, you will always get systemic problems. Which one?

Th = brain!

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B/T/Innate: losing this will yield recurrent bacterial infections.

B cell def

Sometimes innate def

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B/T/Innate: losing this will yield recurrent viral infections.

T cell def

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Why might you seen auto-immunity WITH immuno-def?

Th sees there is a defect somewhere in the system
Tries to compensate by ↑cytokines to activate those missing cells
Instead, causes abnormally ↑activity other cells

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When is oral thrush normal vs patho?

Normal = childhood or immune suppressed adults
Abnormal = adults --> immuno-def

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A young kid presents after having a few infections recently. They were treated with antibiotics and resolved, but mom is concerned. Labs show slightly ↓IgG. What is your diagnosis and treatment?

Transient hypoglobulinemia of infancy
DO NOTHING - resolves on own
↓in mom’s IgG - this is a lull time as kid makes own IgG

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A 30 yo patient presents after having multiple different infections. Labs show ↓Ig & no plasma cells. What is your diagnosis? Treatment?

Common variably immuno-def

Ig replacement
Bone marrow transplant

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What is the pathophys of CVID?

Unknown mechansim
Normal/low B cells
CANT become plasma cells! ↓↓↓Ig (but there is some!)
Therefore: recurrent infections of all types

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What are patients with ↓B cell fxn at ↑risk for?

Autoimmune & cancer

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If transient hypoglobulinemia doesn’t resolve on its own, what should you think about?

Burton’s agammaglobinemia

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A 9 month boy has had recurrent otitis media & pneumococcal pneumoia in the past 3 mos. What disease are you thinking about?

Burtons A-G-G

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What is the pathophys of Burton’s A-G-G?

Mutated Burton’s tyrosine kinase

PreB cells can’t progress

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What are the values for Burton's A-G-G?
Pro-B cells
B cells
Ig
T cells

Normal pro-B & T

Low B & Ig

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What are the symptoms of IgA def?

Pulm & GI infections

Bronchitis & pneumonia duo

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How do you treat IgA def?

Give antibiotics for infections as they present

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What should you 100% avoid for IgA def patients?

BLOOD TRANSFUSION

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What immune cell fights Epstein-Barr?

B cells
Via CD21
Beer at the Bar when you’re 21

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What should you be thinking about for a patient presenting with ↑ B cells with ↓Ig and mono?

X-linked lympho-proliferative syndrome
EBV infecting B cells
Making them proliferate –> tumor

A child presents with craniofacial & cardiovascular defects and tetany. What are you thinking of? Treatment?

DiGeorge’s Syndrome
Hypo-thyroid = NO T CELLS
–> hypo-calciemia
Treat: fetal thymic transplant

What causes DiGeorge’s syndrome? Why does this happen?

3rd and 4th pharyngeal pouches disturbed during development
Due to:
Delete chromosome 22
OR
Teratogens

What is a skin infection that is chronic if you are lacking T cells or IL 17/R? What age is this infection common?

Chronic muco-cutaneous candidiasis

Childhood

What is type 1 hyper IgM? Inheritance? Histo?

X linked --> BOYS
X CD40/CD40 L = X B/T interactions
T cells can't help B cells differentiate 
No isotype switching 
NO GERMINAL CENTERS

What is type 2 hyper IgM? Inheritance? Histo?

A.recessive
X AID –> X SHM & CSR
LARGE germinal centers

What are the 5 ways you can get SCID?

1. X linked - gamma chain 2. X JAK 3 --> X IL 7 --> X T cells --> nonfxn B 3. X ADA - accumulated adenosine 4. X PNP 5. reticular dysgenesis 6. Omen syndrome

What is the difference between PNP & ADA SCID?

ADA - ↓T & B | PNP - ↓T, normal B

What is unique about ADA SCID?

Defected cartilage formation

What is unique about X linked SCID?

Normal B cells - ↓IgG b/c no SHM/CSR

What is Omen syndrome?

X RAG1/2 X VDJ recomb ↑IgE - allergic symptoms with immuno-def

What enzyme is missing for radioactive Omen?

Artemis | No NHEJ --> can't DNA repair

Which receptor is most important for X linked SCID?

IL 2

A patient presents with Staph aureus infection with both skin infection and sub-q abscesses. Labs show ↑IgE. What are you thinking of? What is the mutation? What other symptoms should you see?

Job Syndrome STAT3 mutation Weird teeth

What is the difference between Omen and Job patients?

Omen won't survive to the ages Job will

A young boy presents with eczema and purpura. He has a history of repeated Step pneumo & staph aureus infections. What are you thinking?

Wiskott-Aldrich syndrome

What is Wiskott-Aldrich syndrome? Inheritance?

X linked Altered WBC & platelet cytoskeleton ↓T & B cells

You have an immuno-def ataxic patient. What disease do they have?

Ataxia telangiectasia

What is A-T?

``` No DNA repair T & B defects 1. Cerebellar atrophy 2. Occular telangiectasia = dilated blood vessels in eye 3. Radiosensitive ```

What kind of deficiency presents with skin infections & osteomyelitis?

Phagocyte defects

Albino patients with bleeding & peripheral neuropathy.

Chediak-Higashi Syndrome | Dysfxn microtubles - phagocytes can't phagocytose!!

Young boy with granulomas in the skin, GI, GU and history of fungal & bacterial infections.

CGD X linked X NAPDH oxidase

What is the difference between type 1 & 2 leukocyte adhesion deficiency?

1. Die young X CD 18 (LFA = integrin) 2. Survive w/ mental retardation & neuro problems X Selectins

Which hyper IgM is boys only?

Type 1 - CD40L

Which hyper IgE is in older patients?

Job | NOT Omen

Which disease is radiosensitive in adult patients?

Ataxia telagniectasia | NOT Omen

What is the Wiskott-Aldrich syndrome triad?

Thrombocytopenia Eczema Recurrent infections