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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
Chronic mucocutaneous candidiasis: What are the labs?
- 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
What are the T cell deficiencies and what do they all generally predispose to?
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
SCID: What is the pathogenesis?
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
SCID: What are the symptoms?
- 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
SCID: What is is the treatment?
Bone marrow transplant | - NO concern for rejection!! Because body has nothing to figh tit with
30
SCID: What are the labs?
- 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
Ataxia Telangiectasia: What is the pathogenesis?
Mutation in ATM gene -> Can't repair ds DNA breaks -> cell cycle arrest
32
Ataxia Telangiectasia: What are the symptoms?
- Ataxia/ "drunk toddler" from cerebellar defects - Angiomas (telangiectasia) - igA deficiency
33
Ataxia Telangiectasia: What are the labs?
- High AFP - Low IgA, IgG, IgE - Lymphopenia - Cerebellar atrophy
34
Hyper IgM syndrome: What is the pathogenesis?
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
Hyper IgM syndrome: What are the symptoms?
- Pneumocystic infection - Cryptosporidium infection - CMV infection - Pyogenic infections early in life, very severe
36
Hyper IgM syndrome: What are the labs?
High IgM, very low IgG, IgA, IgE
37
Wiskott-Aldrich Syndrome: What is the pathogenesis?
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
Wiskott-Aldrich Syndrome: What are the symptoms?
"WASps MATER too" - Malignancy associated with it - Autoimmune associated with it - Thrombocytopenia - Eczema - Recurrent infections
39
Wiskott-Aldrich Syndrome: What are the labs?
Lowish IgG, IgM Highish IgE, IgA Platelets are few and small
40
What are the combined B/T dysfunctions?
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
Leukocyte Adhesion Deficinecy Type 1: What is the pathogenesis?
AR defect of CD18 integrin in LFA-1 protein on phagocytes -> can't leave blood to get to tissues
42
Leukocyte Adhesion Deficinecy Type 1: What are the symptoms?
- 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
Leukocyte Adhesion Deficinecy Type 1: What are the labs?
- Neutrophilia (no LFA-1 to bind ICAM-1 to leave blood) | - No neutrophils at infection sites
44
Chediak-Higashi Syndrome: What is the pathogenesis?
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
Chediak-Higashi Syndrome: What are the symptoms?
"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
Chediak-Higashi Syndrome: What are the labs?
- 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
Chronic granulomatous disease: What is the pathogenesis?
- Defect in NADPH oxidase -> Cant convert O2 to O2- -> no respiratory burst - Usually x linked recessive
48
Chronic granulomatous disease: What are the symptoms?
Susceptibility to catalse + organisms (Nocardia, Pseudomonas, Listeria, Aspergillis, Candida, E Coli, Staph, Serratia) -- pathoma says kelbsialla too
49
Chronic granulomatous disease: What are the labs?
- 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
What are the 3 phagocyte dysfunction immunodeficinecies?
1. LAD1 2. Chediak-Higashi 3. CGD
51
Someone has adrenal failure, chronic candida infections, and hypoparathyroidism-- what do they have?
APES (autoimmune polyendocrine syndrome) due to AIRE mutation, so self reactive T cells dont die
52
Someone has recurrent infections, thyroiditis, type 1 diabetes, diarrhea, and they are a boy with an uncle affected-- what do they have?
IPEX syndrome (immune def, polyendocrinopathy, enteropathy, x-linked) due to fox p3 mutation
53
What do low granulocytes/neutrophils predispose you to?
- systemic candida - aspergillus *naSSSty aSSSpergillus - staph (me: cat+) - pseudomonas (me: obligate aerobe) - nocardia (me: obligate aerobe) - serratia - burkholderia cepacia

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