Immunodeficiency Disorders Lecture Powerpoint Flashcards
8/26/19
6 signs that immune system may not be functioning properly
1) 8 or more new ear infections in a year
2) two or more serious sinus infections in a year (particularly in kids)
3) two or more months on persistent antibiotics without relief
4) failure to thrive
5) oral thrush present after 1 year of age
6) recurrent need for IV antibiotics to clear infections
CMV opportunistic infeection
Causes eye disease that can lead to blindness in immunocompromised host as well as infants thru maternal delivery
Herpes simplex virus opportunistic infection
Very severe, recurrent, symptomatic herpes outbreaks can imply immunocompromised host
Mycobacterium avium complex opportunistic infection
Bacterial infection causing recurring fevers and malaise in immunocompromised host
Pneumocystis pneumonia (PCP) opportunistic infection
Fungal infection that can cause fatal pneumonia, fairly common in immunocompromised hosts
Toxoplasmosis
Protozoal infection of the brain often sourced from cat feces in immunocompromised hosts
Primary vs 2ndary immunodeficiencies
Primary are not attributable to other disease processes, 2ndary are such as DM, cushings, chemo
Significant molecule in the production of neutrophils and macrophages
Colony stimulating factor (G-CSF)
Congenital neutropenia (what type is it, what should you know about it)
Production disorder, rare, caused by an ELANE gene mutation
Cyclic neutropenia (what type is it, what should you know about it)
Production disorder, monthly rise and fall in wbc being produced, might see patient getting sick during those times but rarely impacts life significanly
Chediak Higashi syndrome(what type is it, what should you know about it)
Production disorder, autosomal recessive disorder resulting in partial albinisim, impaired phagolysosome production resulting in large granules, frequent bacterial infections, and peripheral neuropathy later in life
4 types of disorders around phagocytes
1) production
2) maturation
3) increased destruction
4) autoimmune
Maturation disorders of phagocytes (3)
- nutritional B12/folate deficiency
- myelodysplastic syndromes
- viral infections
Disorders of increased destruction of phagocytes (3)
- Antiboties
- Vaccines
- post infection disorders
Autoimmune disorders of phagocytes (4)
- Felty syndrome
- systemic lupus erythematosus
- rheumatoid arthritis
- transfusion reaction
Felty syndrome and the triad for diagnosis
Mostly assymptomatic, some develop serious and life threatening infections secondary to granulocytopenia
Rheumatoid arthritis, splenomegaly, neutropenia
Glucocorticosteroids positive and negative effects on the neutrophil
Positive - enhance production and mobilize marginated (peripheral pool ) into circulation
Negative - reduce adherence capacity and chemotactic properties
Measuring neutrophil count after taking prednisone will result in a…. because…
…falsely elevated result due to the mech of glucocorticosteroids drawing the neutrophils from the marginated pool to the circulation
X linked agammaglobulinemia (bruton syndrome) notes (4)
- tyrosine kinase enzyme is deficient preventing the progression of B cells in development
- No mature B cells reach periopheral circulation
- Lymphoid structures are hypoplastic
- Found only in boys
X linked agammaglobulinemia clinical presentation, common lab results
-increased infections detected after 5 months of age, low Ig, no B cells
X linked agammaglobulinemia treatment and prognosis
- Gamma globulin administration weekly
- prophylatic antibiotics
-Excellent normal life span with lack of GI protection because IgA is skipping the gut
Common variable acquired immune deficiency notes (4)
- most common of treatable immunoglobulin deficit states
- B cells do not respond to T cell signaling
- Absence of helper T cells
- Most common onset ages are between 6-8 and 15-35
Common variable immune deficiency clinical presentation, common lab result
-Severe respiratory infections, malabsorption
Low Ig, B cells are immature with no plasma cells
Common variable immune deficiency treatment an dprognosis
-Gamma globulin balanced between immunosuprression of autoimmune disease while still fighting infection
Good prognosis
Hyper IgM syndromes definition, and how is it genetically favored?
Occur when T cell lacks signal to make B cell switch from making IgM to more specific IgG or A, either X linked or autosomal recessive
Common clinical presentation of hyper IgM syndrome
Opportunistic pneumocystis jiroveci pneumonia in the 1st year of life
Hyper IgM syndrome lab results
- Neutropenia
- High IgM
- Very low IgA and G
- Absent memory B cells
Hyper IgM syndrome treatment and prognosis
Treated with IVIg, in the case of X linked dominant can be treated with a stem cell transplant
Prognosis is good for autosomal recessive and worse for X linked dominant requiring stem cell transplant and rarely live beyond 30
Most common of all immunodeficiencies and what group does it affect the most?
IgA, caucasians
Common clinical presentation of IgA deficiency and lab results
Recurrent bacterial infections of respiratory and GI origin, otherwise typically healthy
IgA tests show <5mg/dl for diagnosis
IgA deficiency treatment and prognosis
No treatment beyond symptomatic,
good normal life expectancy
Transient hypogammaglobulinemia of pregnancy definition
Low antibody in new born from birth to up to 3 years, due to infant not getting any maternal antibody, common and self limiting with no sequelae
DiGeorge syndrome key points (4)
- Deficit of T cells
- Defect of chromosome 22 in 50% of cases
- Results in poor or no development of several body systems
- Has triad of absent thymus, absent parathyroid (hypocalcemia), tetralogy of Fallot
- Facial congenital abnormalities
DiGeorge syndrome labs
- Low T cell cound
- More CD4 than CD8
- Hypocalcemia
DiGeorge sydrome treatment and prognosis
Varies from no treatment all the way up to thymus transplant
Requires thymus transplant or marrow transplant
Chronic mucocutaneous candidiasis definition
Functional deficit of T cell product cytokine that keeps candida in check
Chronic mucocutaneous candidiasis clinical presentation and lab results
Recurrent or persistent severe skin and mucous membrane infections with scarring or disfigurement
KOH prep, HGB AIC , skin prick test
Chronic mucocutaneous candidiasis treatment and prognosis
Systemic antifungals for treatment
Life expectancy is generally normal but can cause premature death in disseminated sepsis
Severe combined immunodeficiency (SCID) definition
Complete lack of T and B cells,
Severe combined immunodeficiency (SCID) clinical presentation and labs
Medical emergency, often see pneumocystis jiroveci infection
Low lymphocyte count, normal IgG, high IgE and A, low IgM
Severe combined immunodeficiency (SCID) treatment and prognosis
Protection in bubble, IVIg, stem cell transplant even if unmatched
Delayed diagnosis has poor outcomes
Wiskott Aldrich syndrome definition
Dysfunction of T cells
Wiskott Aldrich syndrome triad of clinical presentation and Labs
Triad of eczema, thrombocytopenia, recurrent infections, bleeding and bruising
Low thrombocytes,
Wiskott Aldrich syndrome treatment and prognosis
Fully matched stem cell transplant early in life, antibiotic prophylaxis, IVIg
Common to see autoimmune diseases and lymphoma
