Pathology Test 4 Primary Immunodeficiency Syndromes

Front 1

When should you suspect immunodeficiency?

Back 1

when child presents with unusual, chronic, or recurrent infections.

2+ systemic bacterial infxns (sepsis, osteomyelitis, meninigitis)

3+ serious respiratory/bacterial infections within 1 year

odd locations for infections (brain/liver)

Front 2

What is the normal absolute lymphocyte count in people less than 6 years old?

Back 2

Greater than 2500/mm3

Front 3

What is burtons disease?

Back 3

X-linked agammaglobulinemia

Front 4

What is the problem in Brutons disease?

Back 4

Mutated Brutons tyrosine kinase.
Affects B cells- pro B/pre-B cells dont turn into B cells.

Front 5

Are T cells affected in Brutons disease?

Back 5

no they are not

Front 6

Who gets Brutons disease? at what age and why?

Back 6

Males- because it is X linked.
happens after 6 months, because maternal Ig's have been depleted

Front 7

What are the symptoms of Brutons disease?

Back 7

Recurrent bacterial infections.
like URT's caused by Staph, Strep, and H. influenza

Front 8

What is the morphology of Brutons disease?

Back 8

plasma cells absent
peyers patches absent
rudimentary appendix/tonsils
Pre-B cells are present, But immature B cells are absent

Front 9

What does the CBC of Brutons disease look like?

Back 9

WBC/Lymphocyte is normal

Peripheral B cells CD markers are low

Immunoglobulins decreased.

Plasma cells absent

Front 10

Are Skin tests for disease normal in Brutons disease?

Back 10

yes, normal TB test- (mediated by CD4+ cells that are primed)

Front 11

What is the Tx for Brutons disease?

Back 11

replacement with immunoglobulins

Front 12

What happens in Common Variable Immunodeficiency?

Back 12

you get hypogammagloublinemia, all classes of Ig's are decreased

Front 13

Who usually gets Common Variable Immunodeficiency, and when?

Back 13

this affects both sexes, onset in 2nd-3rd decade (so...10-29?)

Front 14

What are the symptoms of Common Variable Immunodeficiency?

Back 14

Recurrent sinopulmonary bacterial infections
Enterovirus encephalitis
Giardia Lamblia Diarrhea
Recurrent Herpes

Front 15

What are the common complications of Common Variable Immunodeficiency?

Back 15

Autoimmune disease in 20%

increased risk of malignant lymphoma

increased risk of gastric carcinoma

Front 16

What role do T cells play in Common Variable Immunodeficiency?

Back 16

t cell dysregulation leads to B cell dysfunction

Front 17

What do B cells do in response to antigens in Common Variable Immunodeficiency?

Back 17

B cells will proliferate, but do not form antibodies

Front 18

What is the morphology of Common Variable Immunodeficiency?

Back 18

Hyperplastic lymphoid follicles (large lymph nodes, spleen, and MALT/GALT in the GI)

Front 19

How do you get IgA deficiency?

Back 19

this can be familial or acquired

either isolated or secondary to infections

Front 20

What are the signs of IgA deficiency?

Back 20

sinopulmonary infections inculding bronchiectasis

diarrhea

risk of Allergies, and autoimmune disease

may have Anti-IgA serum antibodies

Front 21

What is the risk in transfusion for IgA deficiency?

Back 21

You can have an anaphylatic rxn to the IgA in the blood- if you have developed anti-IgA antibodies

Front 22

What stops IgA from being made?

Back 22

Block of differentiation of Naive B cells into IgA producing cells

Front 23

What is the CBC of IgA deficiency like?

Back 23

this should be normal, because there are normal levels of IgA positive B cells

Front 24

What immunoglobulins are present, and which are absent with Hyper IgM syndrome?

Back 24

IgM and IgD are high

IgG, IgA, And IgE are absent entirely

Front 25

What causes Hyper IgM syndrome?

Back 25

Defect in T cells- fails to induce B cells to produce anything other than IgM

Front 26

What happens to macrophages in Hyper IgM syndrome?

Back 26

T cells fail to activate them to eliminate intracellular microbes

Front 27

What CD's are mutated in Hyper IgM syndrome?

Back 27

CD40 or CD40L mutations block the CD4 signal to B lympgocytes

Front 28

What does the X linked form of Hyper IgM syndrome mutate?

Back 28

CD40L

Front 29

What does the autosomal recessive form of Hyper IgM syndrome mutate?

Back 29

CD40

Front 30

What infections does Hyper IgM syndrome make one prone to?

Back 30

Recurrent pyogenic infections
Penumocystic jiroveci penumonia
Autoimmune hematologic rxns like (anemia, thrombocytopenia, neutropenia)

Front 31

What is the pathogenesis of DiGeorge Syndrome?

Back 31

partial deletion of chromosome 22q11

Front 32

What are the clinical features of DiGeorge Syndrome?

Back 32

Malformation of 3rd/4th pharyngeal pouches.
Absent thymus
Hypoplasia of parathyroids
Funny looking face

Front 33

What happens to the blood chemistry in DiGeorge Syndrome?

Back 33

calcium is low

Front 34

What is the CBC like in DiGeorge Syndrome?

Back 34

Absent T cells in blood
Normal plasma cells

Front 35

What is the clinical signs of DiGeorge Syndrome?

Back 35

Frequent viral, fungal, and protozoan infections
increased microbe infections

Front 36

What is the Tx for DiGeorge Syndrome?

Back 36

thymic transplant (sweet!)

Front 37

What are the two most common types of Severe Combined Immunodeficiency?

Back 37

Cytokine receptor and ADA deficiency

Front 38

What are the symptoms of Severe Combined Immunodeficiency in infants?

Back 38

Thrush, diaper rash, failure to thrive
Neonatal rash due to GVH disease, maternal lymphs via placenta engrat into infant and cause injury

Front 39

What are the signs of Severe Combined Immunodeficiency?

Back 39

Recurrent severe infections by bacteria, viruses, FUNGI, protozoa

opportunistic infections

hypoplastic thymus

underdeveloped lymph nodes, tonsils, GALT

Lymphopenia

Front 40

How is Severe Combined Immunodeficiency transmitted?

Back 40

X linked in 50-60% of cases

Front 41

What does the X linked defect in Severe Combined Immunodeficiency cause?

Back 41

this causes a cytokine receptor mutation, in the gamma chain subunit

Front 42

What does ADA enzyme deficiency in Severe Combined Immunodeficiency cause?

Back 42

This leads to an accumulation of metabolites toxic to immature T lymphocytes

Front 43

What two immunodeficiency syndromes presents with eczema in infancy?

Back 43

Job syndrome (hyper IgE)

And Wiskott Aldrich syndrome

Front 44

What are the lab features of Job (hyper IgE) syndrome?

Back 44

Increased IgE and Eosinophilia
Coarse facial features
failure to lose primary teeth
Eczematoid skin rash

Front 45

What is the inheritance of Wiskott-Aldrich syndrome?

Back 45

X linked recessive inheritance

Front 46

What are the clinical signs of WAS?

Back 46

thrombocytopenia

eczema

Front 47

What is the pathogenesis is WAS?

Back 47

defective signalling through the cytoskeleton, causes loss of T cells

Front 48

What are the Labs in WAS like?

Back 48

High IgE, Low IgM
Decrease T cells
Low Platelets

Front 49

What does Inherited defects in C1q, C2, and C4 cause?

Back 49

Immune complex disease- like SLE

Front 50

What does C3 defect cause?

Back 50

pyogenic infections and glomerulonephritis

Front 51

What does C5-C8 defect cause?

Back 51

loss of ability to lyse bacteria (no MAC attack!)

recurrent Neisseria infections

Front 52

What causes hereditary angioedema?

Back 52

defect of C1 esterase inhibitor

Front 53

What does C1 inhibitor normally do?

Back 53

this targets complement cascade components C1s.

Front 54

What are the clinical features of hereditary angioedema?

Back 54

Episodic edema
laryngoedema with asphyxia
GI issues
Episodes precipitated by minor trauma or stress