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First Aid > Random Last Week > Flashcards

Random Last Week Flashcards

1
Q

What does the skin above the umbilicus drain to?

A

The axillary lymph nodes

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2
Q

What does the skin below the umbilicus drain to?

A

The superficial inguinal lymph nodes

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3
Q

X-linked Agammaglobulinemia (Brutons): What is the pathogenesis?

A

Defect in BTK (tyrosine kinase gene) so B cells can’t mature.

Number of B cells is low, but the ones that DO mature work just fine (unlike CVID)

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4
Q

X-linked Agammaglobulinemia (Brutons): What are the symptoms?

A

Usually a boy, after age 6 months, start getting:

  • Bacterial infections
  • Enterovirus infections (me: Includes Polio, Echo, Coxsackie, HAV)
  • Giardia
  • Issues with live vaccines (ex: Sabin Polio vaccine)

Also see small/no tonsils and lymph nodes

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5
Q

X-linked Agammaglobulinemia (Brutons): What are the labs?

A
  • Low Ig (all kinds)
  • No B cells in blood
  • No germinal centers/follicles in lymph node
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6
Q

IgA deficiency: What is the pathogenesis?

A

Unknown. But its the most common immunodeficiency!

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7
Q

What is the most common immunodeficiency?

A

IgA deficiency

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8
Q

IgA deficiency: What are the symptoms?

A

most are ASYMPTOMATIC, but may get:

  • Anaphylaxis to IgA products (ex: transfused blood products)
  • GI infections (ex: Giardia… IgA is the main defense against that)
  • Airway infections (ex: H. flu, S. pneumo)
  • Autoimmune disease (ex: Celiacs often goes with this)
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9
Q

IgA deficiency: Labs?

A

Just low IgA levels, everything else normal levels

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10
Q

CVID: What is the pathogenesis?

A

There are many different causes, but basically B cells can’t differentiate well.

This is a QUALITY B cell problem (unlike x-linked brutons agammaglobulinemia), although numbers may be low in this too. However, x-linked agammaglobulinemia is more severe.

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11
Q

CVID: What are the symptoms?

A

Starting around age 20-30 yr old, get:

  • Autoimmune disease
  • Bronchiectasis
  • Lymphoma
  • Sinopulmonary infections
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12
Q

CVID: What are the labs?

A
  • Low plasma cells

- Low Ig

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13
Q

What are the 3 B cell disorders, and what do they make people susceptible to in general?

A
  1. X-linked agammaglobulinemia (BTK mutation)
  2. IgA deficiency
  3. CVID

In general no B cells =

  • Susceptibility to encapsulated bacteria
  • Susceptibility to fecal-oral enteroviruses (No polio live vaccine)
  • Susceptibility to Giardia
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14
Q

DiGeorge syndrome/Thymic aplasia: What is the pathogenesis?

A

Deletion at 22q11 causes failure to develop 3rd and 4th pharyngeal/brachial POUCHES, so the parathyroids and the thymus do not develop

  • memory: Pharyngeal pouches = ear, tonsils, bottom-to, top
  • memory: curious George was a monkey with a POUCH
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15
Q

DiGeorge syndrome/Thymic aplasia: What are the symptoms?

A
  • Tetany (from hypocalcemia)
  • Recurrent viral and fungal infections (candida, CMV, etc)
  • Cardiac defects (truncus arteriosus, tetralogy of fallot)
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16
Q

DiGeorge syndrome/Thymic aplasia: What are the labs?

A
  • Low T cells
  • Low PTH (because parathyroids didnt develop)
  • Hypocalcemia
  • 22q11 defect detected on FISH
  • No thymic shadow on X-ray
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17
Q

IL-12 receptor deficiency: What is the pathogenesis?

A

Autosomal recessive lack of IL-12 receptor means no Th1 response is formed (Normally, macrophages release IL-12 to stimulate Th1 cells, which then release IFNgamma to stimulate macrophages, etc)

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18
Q

IL-12 receptor deficiency: What are the symptoms?

A
  • Mycobacterial infections (TB, leprosy?, etc)
  • Fungal infections (candida, etc)
  • May have problems after giving BCG vaccine (the TB vaccine)
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19
Q

IL-12 receptor deficiency: What are the labs?

A

Low IFN gamma

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20
Q

Job Syndrome (AD HyperIgE syndrome): What is the pathogenesis?

A

STAT3 mutation -> Deficient Th17 cells -> Imapired neutrophil recruitment

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21
Q

Job Syndrome (AD HyperIgE syndrome): What are teh symptoms?

A

“FATED” to get a Job

  • Facies (coarse)
  • Abscesses (cold, non-inflamed, staph)
  • Teeth (retained baby teeth)
  • E (increased IgE)
  • Dermatologic (eczema)
  • memory: A creepy face with eczema and pointy baby teeth says “JOB JOB JOB”
  • memory: The JOB search is a COLD place.. cold abscesses
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22
Q

Job Syndrome (AD HyperIgE syndrome): What are the labs?

A
  • High IgE

- Low IFN gamma (I guess because Th17 cells normally help secrete IFN gamma)

23
Q

Chronic mucocutaneous candidiasis: What is the pathogenesis?

A

There are many causes, but basically they all lead in T cell dysfunction.

24
Q

Chronic mucocutaneous candidiasis: What are the symptoms?

A
  • Candida albicans infections of the skin and mucus membranes (non invasive because invasive is based on neutrophils!! and this is just T cell deficiency)
25
Q

Chronic mucocutaneous candidiasis: What are the labs?

A
  • In vitro, T cells do not proliferate in response to candida antigens
  • Cutaneously, patient gets no response to candida antigen (I guess the subQ injection? idk)
26
Q

What are the T cell deficiencies and what do they all generally predispose to?

A

Deficiencies:

  1. DiGeorge syndrome (no thymus)
  2. IL-12 receptor deficiency (no Th1)
  3. Job syndrome (no Th17)
  4. Candidiasis (many causes)

Predispose to:

  • Candida (superficial infection)
  • CMV
  • EBV
  • JCV
  • VZV
  • Chronic resp infection
  • Chronic GI infection
  • bacterial sepsis
27
Q

SCID: What is the pathogenesis?

A

Many causes including:

  • Defecting IL-2 receptor gamma chain
    • > most common
    • > x linked
  • Adenosine deaminase deficiency
    • > build up of adenosine/deoxyadenosine is toxic to lymphocytes
    • > autosomal recessive
  • Loss of IL-7 receptor
  • MHC2 deficiency
  • RAG deficiency
28
Q

SCID: What are the symptoms?

A
  • Failure to thrive
  • Chronic diarrhea (B cells in guit)
  • Thrush (T cells do candida of skin)
  • Recurrent infections of all kinds (bacterial, fungal, viral, protozoal)
  • Susceptible to live vaccines
29
Q

SCID: What is is the treatment?

A

Bone marrow transplant

- NO concern for rejection!! Because body has nothing to figh tit with

30
Q

SCID: What are the labs?

A
  • Absent TRECs (how you diagnose)
  • No thymic shadow on X-ray (like DiGeorge)
  • No germinal centers in lymph nodes (like Agammaglobu)
  • No T cells on flow cytometry
31
Q

Ataxia Telangiectasia: What is the pathogenesis?

A

Mutation in ATM gene -> Can’t repair ds DNA breaks -> cell cycle arrest

32
Q

Ataxia Telangiectasia: What are the symptoms?

A
  • Ataxia/ “drunk toddler” from cerebellar defects
  • Angiomas (telangiectasia)
  • igA deficiency
33
Q

Ataxia Telangiectasia: What are the labs?

A
  • High AFP
  • Low IgA, IgG, IgE
  • Lymphopenia
  • Cerebellar atrophy
34
Q

Hyper IgM syndrome: What is the pathogenesis?

A

X-linked mutaiton in CD40L on Th cells -> no B cell class switching

Note tha tB cells can still be activated by an antigen binding their IgM, but cannot be activated by MHC2 presentation to T cells. No memory B cells form.

35
Q

Hyper IgM syndrome: What are the symptoms?

A
  • Pneumocystic infection
  • Cryptosporidium infection
  • CMV infection
  • Pyogenic infections early in life, very severe
36
Q

Hyper IgM syndrome: What are the labs?

A

High IgM, very low IgG, IgA, IgE

37
Q

Wiskott-Aldrich Syndrome: What is the pathogenesis?

A

X-linked mutation in WAS gene -> T cells can’t reorganize their actin cytoskeleton -> T cells die, so B cells have issues too because depend on T cells

*memory: WASP automotive works on cars, which are basically one piece of metal cytoskeleton

38
Q

Wiskott-Aldrich Syndrome: What are the symptoms?

A

“WASps MATER too”

  • Malignancy associated with it
  • Autoimmune associated with it
  • Thrombocytopenia
  • Eczema
  • Recurrent infections
39
Q

Wiskott-Aldrich Syndrome: What are the labs?

A

Lowish IgG, IgM
Highish IgE, IgA

Platelets are few and small

40
Q

What are the combined B/T dysfunctions?

A
  1. SCID (ADA deficiency, IL-2R deficiency)
  2. Ataxia Telangiectasia (ATM gene, nonhomolog end joining)
  3. Hyper IgM (CD40L defect)
  4. WAS (T cell cytoskeleton defect)
41
Q

Leukocyte Adhesion Deficinecy Type 1: What is the pathogenesis?

A

AR defect of CD18 integrin in LFA-1 protein on phagocytes -> can’t leave blood to get to tissues

42
Q

Leukocyte Adhesion Deficinecy Type 1: What are the symptoms?

A
  • Delayed separation of umbilical cord (>30 days)
  • Impaired wound healing (no phagocytes to take away debris)
  • Recurrent skin + mucosal infections from bacteria, but NO PUS!
43
Q

Leukocyte Adhesion Deficinecy Type 1: What are the labs?

A
  • Neutrophilia (no LFA-1 to bind ICAM-1 to leave blood)

- No neutrophils at infection sites

44
Q

Chediak-Higashi Syndrome: What is the pathogenesis?

A

autosomal recessive LYST gene mutaiton -> microtubule dysfunction -> bad lysosomal trafficking -> no phagosome-lysosome fusion

*memory: chediak and higashi are 2 fat guys that cant eat because one has the food and the other the utensils

45
Q

Chediak-Higashi Syndrome: What are the symptoms?

A

“SPAN” of symptoms

  • Staph/strep pyogenic infections
  • Pancytopenia
  • Albinism (mealnocytes cant pass melanin)
  • Neuropathy (peripheral AND neurodegeneration) (neurons cant traffic proteins down their axons)

also

  • infiltrative lymphohistocytosis
  • horizontal nystagmus?
46
Q

Chediak-Higashi Syndrome: What are the labs?

A
  • Giant granules in granulocytes (no microtubules to spread them out)
  • Giant granules in platelets
  • Pancytopenia (cells cant divide well with no microtubules)
  • Mild coagulation defects (because platelet microtubules are slightly affected)
47
Q

Chronic granulomatous disease: What is the pathogenesis?

A
  • Defect in NADPH oxidase -> Cant convert O2 to O2- -> no respiratory burst
  • Usually x linked recessive
48
Q

Chronic granulomatous disease: What are the symptoms?

A

Susceptibility to catalse + organisms (Nocardia, Pseudomonas, Listeria, Aspergillis, Candida, E Coli, Staph, Serratia) – pathoma says kelbsialla too

49
Q

Chronic granulomatous disease: What are the labs?

A
  • Abnormal di-hydro-rhodamine test on flow cytometry

- Negative NBTZ (nitro blue tetrazolium) test, because the test measures O2 -> O2- and turns blue if you make it

50
Q

What are the 3 phagocyte dysfunction immunodeficinecies?

A
  1. LAD1
  2. Chediak-Higashi
  3. CGD
51
Q

Someone has adrenal failure, chronic candida infections, and hypoparathyroidism– what do they have?

A

APES (autoimmune polyendocrine syndrome) due to AIRE mutation, so self reactive T cells dont die

52
Q

Someone has recurrent infections, thyroiditis, type 1 diabetes, diarrhea, and they are a boy with an uncle affected– what do they have?

A

IPEX syndrome (immune def, polyendocrinopathy, enteropathy, x-linked) due to fox p3 mutation

53
Q

What do low granulocytes/neutrophils predispose you to?

A
  • systemic candida
  • aspergillus *naSSSty aSSSpergillus
  • staph (me: cat+)
  • pseudomonas (me: obligate aerobe)
  • nocardia (me: obligate aerobe)
  • serratia
  • burkholderia cepacia

First Aid (7 decks)

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