L 22 Flashcards
What are primary immuno-def?
Inherited!
Many won’t survive to term
If you damage this immune cell, you will always get systemic problems. Which one?
Th = brain!
B/T/Innate: losing this will yield recurrent bacterial infections.
B cell def
Sometimes innate def
B/T/Innate: losing this will yield recurrent viral infections.
T cell def
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
When is oral thrush normal vs patho?
Normal = childhood or immune suppressed adults Abnormal = adults --> immuno-def
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
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
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
What are patients with ↓B cell fxn at ↑risk for?
Autoimmune & cancer
If transient hypoglobulinemia doesn’t resolve on its own, what should you think about?
Burton’s agammaglobinemia
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
What is the pathophys of Burton’s A-G-G?
Mutated Burton’s tyrosine kinase
PreB cells can’t progress
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
What are the symptoms of IgA def?
Pulm & GI infections
Bronchitis & pneumonia duo
How do you treat IgA def?
Give antibiotics for infections as they present
What should you 100% avoid for IgA def patients?
BLOOD TRANSFUSION
What immune cell fights Epstein-Barr?
B cells
Via CD21
Beer at the Bar when you’re 21
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?
- X linked - gamma chain
- X JAK 3 –> X IL 7 –> X T cells –> nonfxn B
- X ADA - accumulated adenosine
- X PNP
- reticular dysgenesis
- 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?
- Die young
X CD 18 (LFA = integrin) - 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
