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Pathoma Chapter 2

3rd-4th Pharyngeal Pouch Fail
22q11 microdeletion
No Thymus
No Parathyroid

Embryologically, What is DiGeorge Syndrome? Cytochemically, what is DiGeorge Syndrome?
Immunoanatomically, what is DiGeorge Syndrome?
Endocrinoanatomically, what is DiGeorge Syndrome?


A T cell deficiency (such as a lack of a thymus) confers vulnerability to what organisms?

No Parathyroid
No thymus

Why are DiGeorge syndrome patients hypocalcemic from an organ standpoint? Why are they at risk for fungal and viral infections?

lymphocyte toxicity

Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency (i.e. deoxyadenosine build up and adenosine build up) is principally a disease of what?

Lymphocyte maturation

Severe Combined Immunodeficiency due to defective/absent cytokine receptors is principally a disease of what?

CD4+ T cell activation

Severe Combined Immunodeficiency due to defective/absent MHC II is principally a disease of what? Will IgM/D titers be normal? Will IgG/A/E titers be normal?


A functional deficiency in B cells leaves the patient at risk for what infections?

B Cell maturation
plasma cells
Bruton Tyrosine Kinase

X Linked Agammaglobulinemia (no immunoglobin in blood) is principally a disease of what? What cells produce immunoglobin in the blood? What is the gene defected?

Maternal antibodies
No IgG
No IgA at GI mucosa

X Linked Agammaglobinemia (no immunoglobin in blood) is a disease of B cell maturation. BTK mutation disables B cells from maturing to plasma cells. Why does this disease not present until 6 months? What is responsible for the risk of bacterial infection? What is responsible for the risk of enterovirus and giardia infection?

Common Variable Immunodeficiency
No IgG
No IgA at GI mucosa

No Ig class switch due to a CD4+ T cell defect (no IL4; IL5) OR due to a B cell defect. What disease?
Why susceptible to bacteria? Why susceptible to enterovirus and giardia?


What are the 2 disease associations with Common Variable Immunodeficiency (No Ig Class Switch from either CD4+T cell IL4;IL5 fail OR a B cell fail).

IgA Deficiency
Celiac Disease
Enterovirus Giardia

What is the most common primary immunodeficiency? What is the disease association? What infections are these patients at risk for?

Hyper IgM Syndrome
Immunoglobin class switching
No IgA at GI mucosa
No IgG

Primary immunodeficiency due specifically to either B cell CD40 fail OR CD4+ T cell CD40L fail? What process is disabled? Why are these patients at risk for enterovirus and giardia? Why are these patients at risk for pyogenic infections?

Wiskott Aldrich Syndrome
X linked

Due to an X linked mutation of cytoskeletal function protein in Hematopoietic Stem Cells. Small Platelets that get cleared by the spleen=thrombocytopenia. Poor Cell mediated immunity (T cell actin reorganization). Poor Humoral Immunity (B cell actin reorganization). Ezcema. Various Recurrent Infections.
What disease?
What inheritance?

Wiskott Aldrich Syndrome
X linked

Various Recurrent Infections
What disease? What inheritence?


A complement deficiency of C5,6,7,8, or 9 leaves one vulnerable to what infection?

C1 inhibitor Deficiency

A complement deficiency that results in overactive complement, which causes vasodilation+vasopermeability. This results in edema especially periorbital and mucosal edema.

C1 inhibitor deficiency

What primary immunodeficiency?

Wiskott Aldrich Syndrome

Platelets=100,000/uL (Normal:150,000-400,000)
Various Recurrent Infections (T cell + B cell defect)

DiGeorge Syndrome
3rd-4th Pharyngeal Pouch Fail
22q11 microdeletion

Hypocalcemic. High Viral and Fungal infections. What diisease? What embryological defect? What cytochemistry?

Mixed Connective Tissue Disorder
anti U1 ribonucleoprotein

Combined symptoms mimicking an amalgamation of SLE+System Sclerosis+Polymyositis. What disease?
What antibody?

SLE Libman Sacks endocarditis

Immunecomplex vegetations on both sides of the heart valves.

Diffuse Scleroderma

anti DNA topoisomerase antibody

Localized Scleroderma

anti centromere antibody

DNA topoisomerase
Diffuse Scleroderma

What is the Scl 70 antibody against? What disease?

rheumatoid arthritis

What other autoimmune disease is associated with Sjogren syndrome (anti Lacrimal + anti Salivary)?

B cell Lymphoma

Sjogren Syndrome (anti-ribonucleoprotein and anti-neutrophil antibodies attack Lacrimal and Salivary glands) is apparent by examination of chronically enlarged and fibrosed parotids. What is suspect if after long standing disease, one parotid becomes larger than the other?

Sjogren Syndrome
Lacrimal Salivary

What are anti-SS A and anti-SS B directed against? What disease? What anatomical structures?

Type IV

What type of hypersensitivity is Sjogren Syndrome?

Type II
Type III

What type of hypersensitivity is SLE?

Drug Induced SLE

Anti HIstone Antibody. What disease? What cause? What treatment?


anti neutrophil antibody
anti dsDNA antibody

lupus anticoagulant
lifelong anticoagulation

False PTT elevation
Hypercoagulability (DVT, Budd Chiari, placental thrombosis, stroke). What disease? What treatment?

anti cardiolipin

false + syphilis test

diffuse proliferative glomerulonephritis

The most common cause of death attributed to SLE?

anti WBC antibody

Why might an SLE patient be at increased risk for infections?

Localized Scleroderma
Anti centromere antibody

What disease? What antibody?


Regarding the first phase of would healing: granulation. What cells deposit pliable Type III collagen? What distributes nutrients? What contracts the wound?

Zn2+ Collagenase

In progressing from granulation tissue to a fibrous scar, what enzyme is responsible for clearing the pliable Type III collagen in order to make way for the tensile strengthened Type I collagen?

Cu2+ deficiency

Delayed Wound healing due to inability to crosslink collagen attributable to nonfunctioning Lysyl Oxidase may be due to what?

Zn2+ deficiency

Delayed wound healing due to inability of Collagenase to clear pliable Type III collagen in order to make way for Tensile Strong Type I collagen may be due to what?


Rupture of a wound (particularly after abdominal surgery)

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