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?
Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency (i.e. deoxyadenosine build up and adenosine build up) is principally a disease of what?
Severe Combined Immunodeficiency due to defective/absent cytokine receptors is principally a disease of what?
CD4+ T cell activation yes no
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
Platelets<150,000/uL Ezcema 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)
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.
anti DNA topoisomerase antibody
anti centromere antibody
DNA topoisomerase Diffuse Scleroderma
What is the Scl 70 antibody against? What disease?
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?