B&l: Test 2: 1. Showalter : Hereditary Immune Disease

Front 1

What directly attacks foreign antigens in the body?

Back 1

T-cells

Front 2

Major function of b-cells? mature into?

Back 2

Produce antibodies (IgG, IgA, IgM, IgE)

mature into plasma cells

Front 3

What will enhance the function of B-cells and enable faster production of Igs?

Back 3

Helper T-cells

Front 4

What cells kill others that are infected with viruses and do not require antigen to be presented to them in order to function?

Back 4

NK cells

Front 5

What is a Left Shift and what does it indicate?

Back 5

increase in white blood cell count (phagocytes/Neutrophils)

indicative of bacterial infection

Front 6

How many infections can a child have in a year? What are some of the common causes that must be ruled out before you suspect immunodeficiency??

Back 6

6-12 per year

common causes: ( asthma, foreign body) and secondary immunodeficiency (malnutrition, HIV)

Front 7

important question to ask in H&P

Back 7

has the child been growing well

Front 8

Common variable immunodeficiency (CVID) affects what kind of cells?

**

Back 8

B- cells

thus deficiency of ALL Ig Subclasses

Front 9

Pt presents with recurrent sinus and pulmonary infection, upon drawing labs to look at immune cells, you notice decreased IgA, IgE, IgG, and IgM. You also see low plasma counts. What do they have?
**

Back 9

Common variable immunodeficiency (CVID)

Front 10

treatment for Common variable immunodeficiency (CVID)?

*

Back 10

Immunoglobulin replacement/ IVIG
Antibiotics for specific infections

Front 11

X linked agammaglobulinemia causes an immunodeficiency of what cells?

Back 11

B- Cells

Front 12

IgG subclass deficiency is due to an immunodeficiency of what precursor cells?

Back 12

B-Cells

Front 13

Selective IgA deficiency is due to an immunodeficiency of what precursor cells?

Back 13

B-Cells

Front 14

failure of B-cell precursors to mature into B-lymphocytes and ultimately plasma cells = severe deficiency of immunoglobulins

this describes? **

Back 14

X linked agammaglobulinemia (XLA) or Bruton’s Disease

Front 15

failure of B-cell precursors to mature into B-lymphocytes and ultimately plasma cells = severe deficiency of immunoglobulins..this is due to?

**

Back 15

this is X linked agammaglobulinemia (XLA) or Bruton’s Disease

so this is due to to mutation in btk gene that encodes for Bruton tyrosine kinase, required for B cell development

Front 16

in what problem do Most common way kids present is with recurrent bacterial infections with encapsulated pyogenic bacteria such as Pseudomonas, Strep pneumo, or H. flu

Back 16

X linked agammaglobulinemia (XLA) or Bruton’s Disease

Front 17

If you see a MALE with decreased levels of Igs, what should you think?

female?

Back 17

in males: X linked agammaglobulinemia (XLA) or Bruton’s Disease (because X linked)

in females: Common variable immunodeficiency (CVID)

Front 18

in this problem, there are 4 subclasses that could be affected yet it could resolve spontaneously btw 18 months and 6 years of age...

Back 18

IgG subclass deficiency

Front 19

most pts do not have symptoms, yet if they do, it will likely be a recurrent sinopulmonary infection.s (Recurrent ear infections, sinusitis, bronchitis and pneumonia
) What do they likely have?

Back 19

Selective IgA deficiency

Front 20

Rheumatoid arthritis
Systemic lupus erythematosis (SLE)
Immune thrombocytopenic purpura (ITP)

can be associated with kids with what deficiency?

Back 20

IgA deficiency

Front 21

5 month old child comes into your office and has repeated bacterial infections. Labs show very low IgG levels, IgA may be low, and IgM is normal. What does this pt likely have? What is the outlook for these pts

**

Back 21

Transient hypogammaglobulinemia of infancy

basically Occurs between 3 and 6 months of age, as infant breaks down mother’s Igs

Usually transient but can last up to 8 years, tend to outgrow by 3 to 6 yo

Front 22

DiGeorge Syndrome is a problem with what cells in general?

Back 22

T Cells

Front 23

Chronic Mucocutaneous Candidiasis is a problem with what cells in general?

Back 23

T Cells

Front 24

what is seen in DiGeorge Syndrome and what causes this?

**

Back 24

CATCH 22
Cardiac defects,
Abnormal facies,
Thymic hypoplasia,
Cleft palate,
Hypocalcemia

22q11.2 deletion

Front 25

The thymus gland may be aplastic and thus T- lymphocyte production is impaired resulting in recurrent infections in this problem...what is the problem and the embryologic cause?


**

Back 25

DiGeorge Syndrome

abnormal migration and development of certain cells and tissues (3rd and 4th pharyngeal pouches) during fetal development

Front 26

child comes in with ears that are rotated back and low set, an underdeveloped chin, widespaced eyes, and asymmetry of the lower lip when crying/smiling...these features are associated with?

Back 26

DiGeorge

Front 27

what cardiac defect is commonly found in DiGeorge syndrom pts?

**

Back 27

TETROLOGY OF FALLOT (Pulmonary Atresia with VSD, Truncus Arteriosis, Interrupted Aortic Arch, transposition of great vessels.)

Front 28

T cell deficient response to candida
50% have endocrine abnormalities..what is this

(she really breezed over this so don't fret)

Back 28

Chronic mucocutaneous candidiasis

Front 29

The most serious PID
Potentially fatal
Combined cellular and humoral dysfunction
Severe T cell depletion/dysfunction
B cell dysfunction
No lymphocytes in thymus or peripheral lymph tissues
Extreme susceptibility to serious infections

all describes?

Back 29

Severe combined immunodeficiency- SCID

Front 30

Pneumocystis carini pneumonia is common initial presentation and is Rapidly fatal if not treated... otherwise pts Classically present with chronic lung infections, diarrhea, and FTT

what does this describe?

Back 30

Severe combined immunodeficiency- SCID

Front 31

in what problem is the absolute lymphocyte count around 1500 (normal is 4000)

Back 31

Severe combined immunodeficiency- SCID

Front 32

What is really the only treatment for Severe combined immunodeficiency- SCID?

Back 32

Bone marrow transplantation at young age

Front 33

Ataxia Telangiectasia has problem with what kind of cells?

what is it generally?

Back 33

T and B cells

Ataxia=unsteady gait
Telangiectasia=dilated blood vessels

Front 34

child presents to your office and appears off-balance and has some bulbar conjuctival involvement. You chalk it up to him being clumsy, but on a future return you start to see nystagmus and difficulty initiating voluntary eye movements. You worry that the child may have dysarthria (Difficulty using the muscles needed for speech and swallowing)... you could get your ass sewed because you didn't recognize the kid had...

Back 34

Ataxia Telangiectasia

Front 35

95% of Ataxia Telangiectasia pts have what elevated in their blood?

Back 35

alpha-fetoprotein (AFP)

Front 36

This problem of both T and B cells is progressive neurologically and has an increased risk for lymphoma and leukemia...

Back 36

Ataxia Telangiectasia

Front 37

What is the classic triad for Wiskott – Aldrich Syndrome?

**

Back 37

thrombocytopenia, eczema, and susceptibility to bacterial (encapsulated) and opportunistic infections

Front 38

A male pt presents to your office with recurrent bacterial infections. CBC shows lowered platelet count, and physical exam notes eczema on the skin...What does this kid have?

**

Back 38

Wiskott – Aldrich Syndrome

Front 39

a new baby boy is born (yayy!) and you go to give him a circumcision (ouchhh). After performing this task, the boy almost bleeds out and dies... what happened? (assuming you didn't cut his dick off)

***
**

Back 39

He likely has Wiskott – Aldrich Syndrome

and it is typical to have a reduced number and size of platelets

Front 40

Small platelets are diagnostic of what childhood immune deficiency?

Back 40

Wiskott – Aldrich Syndrome

Front 41

what usually causes death in pts with Wiskott – Aldrich Syndrome?

Back 41

Luekemia/Lymphoma

Front 42

what can correct the low platelet count in kids with Wiskott – Aldrich Syndrome? When is this done?

Back 42

Splenectomy

only if they can't get a bone marrow transplant

Front 43

this problem is due to an absence of an enzyme that leads to to an accumulation of toxic metabolic by -products within lymphocytes that cause the cells to die

**

Back 43

ADA deficiency (adenosine deaminase)

note: Affects both T and B cells

Front 44

what triad is seen with Hyper IgE syndrome (HIES)

**

Back 44

skin boils, severe episodes of pneumonia and very high serum IgE levels

Front 45

pt presents to the office with boils on the arm. They are not warm, or red, or painful. You look in their chart and see a history of recurrent pneumonia. If you were to check their Ig levels, what would you expect to find?

*

Back 45

High IgE

Front 46

Lax joints are typical
Bone fractures occur with seemingly insignificant trauma
Reduced bone density
Scoliosis is common

seen in what?

Back 46

Hyper IgE syndrome (HIES)

Front 47

NOTE: many HIES patients with infection like pneumonia, deny feeling sick and may not see the need for diagnostic testing and prolonged therapy.

Back 47

she said that was important, just didn't know how to ask it

Front 48

pt has decreased levels of IgG, IgA, and IgA with decreased to normal IgE... what gives?

Back 48

Hyper IgM Syndrome (HIM)

Inability to switch immunoglobulin production from IgM to IgG, IgA and IgE.

Front 49

Impaired neutrophil migration and adhesion
Recurrent serious infections
Lack of pus formation
Delayed wound healing..

seen in?

Back 49

Leukocyte Adhesion Deficiencies (LAD)

Front 50

pt has Delayed separation of the umbilical cord with omphalitis..what is their problem

**

Back 50

Leukocyte Adhesion Deficiencies (LAD)

Front 51

Inability of phagocytic cells to make hydrogen peroxide and other oxidants needed to kill certain microorganisms “respiratory burst”=

Back 51

Chronic Granulomatous Disease
(CGD)

Front 52

Associated with an excessive accumulation of immune cells into aggregates called granulomas at sites of infection or other inflammation

Back 52

Chronic Granulomatous Disease
(CGD)

Front 53

unique to this problem, you can see Liver abscess where the pt presents with generalized malaise, mild pain over the liver.

Back 53

Chronic Granulomatous Disease
(CGD)

Front 54

what test is used to measure the hydrogen peroxide in phagocytic cells, and thus is useful to diagnose Chronic Granulomatous Disease
(CGD)...

**What other test could be used (it is a visual test in which phagocytes producing oxidants turn blue and are scored manually using a microscope.)

Back 54

Dihydrorodamine flow cytometry

***Nitroblue tetrazolium reduction assay

Front 55

what problem should you suspect if you see:

In infections from Aspergillis, Nocardia or Burkholderia cepacia pneumonia
Staphylococcal liver abscess or pneumonia
Bone infection with Serratia marcescens

Back 55

Chronic Granulomatous Disease
(CGD)

Front 56

Most common complement deficiency?

not on test

Back 56

C2

Front 57

What host defense has the biggest role in removing meningococci?

Back 57

Complement system

Front 58

C1 inhibitor deficiency can lead to what clinical problem

Back 58

Hereditary angioedema

Swelling in tissues under the skin or mucus membranes that are not pruritic
Can effect hands, feet, bowel, mouth and airway

Front 59

how do you test if there is a problem in the complement system?

Back 59

CH50 assay

tests integrity of whole cascade