Hogan- Primary immunodeficiency Diseases Flashcards
What is the most likely failure of immunity?
What about second most likely?
Least likely?
Antibody defect (B cell)
T cell disorders
innate and complements
Leukocyte development has passed from (blank) to bone marrow BEFORE birth
liver/spleen
Is phagocyte functionality complete in neonates?
yes
Is complement function available to neonates?
yes via maternal passive transfer of IgG
(Blank) will lage until antibody production is initiated.
Antibody mediated complement fixation (self)
Is NK function available in neonates?
yes
When is T cell function complete?
at birth :)
T cell maturation is required to complete B cell maturation to functional antibody function. What does this mean?
It means that T cell function is available at infancy, but B cell function lags for 6-24 months. (i.e if T cells to develop, B cell functionality will suffer)
Autoimmune problems in patient/family members suggest some difficulty with (blank) at possibly a genetic level.
B cell maturation/or tolerance issues
Does immunodeficiency develop before or after autoimmunity?
either
Most immune defenses are (blank) in nature as a significant number of autoimmue issues are failure of B cell maturation/isotope switiching/ or tolerance
humoral
What are some severe infections of the innate immunity?
lymphadenitis, osteomyelitis, pneumonia, and sepsis
Are phagocytes nondiscriminatory? WHat does this mean
yes
they attack both gram + and gram - and yeast/fungal organisms are attacked
When you have a catalase producing organism, what kind of disorder should you be thinking about?
CGD (neutrophil disorder)
What are some CGD organisms?
staph aureus pseudomona aeroginosa aspergillus fumigatus candida enterbacteriiaceae nocardia/listeria
What are common problems in B cell disorders?
otitis media
sinusitis
pulmonary infections
What organisms are associated with B cell disorders?
moraxella
haemophilus influenzae
strep pneumoniae
When is getting otitis media worrisome?
after middle school
When you get an infection from a rar or odd organisms, what kind of problem should you suspect?
T cell
What are some of the weird organisms associated with T cell problems?
pneumocystis carinii
candida: invasive (lung/esophagus)
system viral illness (CMV etc.)
mycobacterial infections: systemic
What are the clinical characteristics of T cell deficiency?
Family history onset before 6 months opportunistic infection no lymph nodes cutaneous lesions increased chance of cancer failure to thrive GvH disease after transfusion Severe fungal/viral infection fatality after BCG diarrhea hepatosplenomegaly
What are the clinical characteristics of B cell deficiency?
Famiy history (autoimmune/immunodeficiency) onset after 6 months recurrent virulent bacterial infections allergy/autoimmune disease vaccine failure sinopulmonary infections failure to thrive
What are the clinical characteristics of phagocytic deficiencies?
severity range mild to severe
susceptible to low grade bacteria, fungus
severe infections (pneumonia/osteomyelitis)
skin infections/ furunculosis
lymphadenitis
abscesses
delayed separation of the umbilical cord
What complement will be deficient if you get recurrent bacterial infections?
C3
What complement will be deficient if you have nesseria infections?
C5-C8
What disease has neutrophils that have azurophilic granules?
chediak higashi
What disease has bi-lobed nucleus in the neutrophils?
specific granule deficiency
If you have neutrophilia what should you consider?
LAD d/o or infection
If you have neutropenia what should you consider?
congenital absence, autoantibody, cyclic neutropenia
If you have small platelets, and decreased number of platelets what should you consider?
WAS
Wiskott aldrich syndrome
If you have an RBC abnormality what should you consider?
autoimmune anemia and associated G6PD deficiency
If you have lymphopenia what should you consider?
SCID in an infant
If you have a genetic deficiency somewhere in the complement cascade what will the CH50 be? how else can you get this number
zero
profound sepsis with DIC: consumptive and will take 4-6 weeks to replenish cascade
If you have a genetic deficiency somewhere in the complement cascade what wil the AH50 be?
zero
could be consumption
If you AH50 and CH50 are both zero. where could you deficiency be?
C3 or C5-9 because these are shared by both assays
What are the 5 immunology labs you want to order?
IgG IgA IgM IgE Albumin
What does albumin tell you?
it determines if IgG loss is secondary
What IgA level is considered good?
any number greater than botom of measurable assay is good despite statistical reporting.
If a child has nasal polyposis what should you look for?
CF test
Before you look for a B cell deficiency in chidren, what 2 things might you look into?
nasal polyposis
immotile cilia syndrome
What can functional responses to vaccines tell you?
can tell you what antibodies arent being produced.
I.e if you respond to protein components but not polysaccharide componenets etc.
If you have IgM, what does this tell you?
that you have titer function
If you have failure in a vaccine you can do an advance test which is what?
its a booster dose that will check for memory cel function and plasma cell production.
If you give an advanced test and al the Igs are decreased what should you be thinking?
CD3, CD4, CD8, CD19, CD56
ie check the CDs
If CD19 (which is B cells) is low, what should you be thinking is the culprit?
XLA
if all Bs and Cs are messed up think SCID
If you are suspecting T cell disorder, what should you look into?
HIV (secondary immunodeficiency)
CD3 CD4 CD8 CD19 (B cell), CD56 (NK cells)
What are some ways you can check T cell function?
lymphocyte stimulation with mitogens
specific antigen studies (PPD if BCG vaccinated)
TREC analysis of thymic output
FISH: 22q11 (DiGeorge)
What is the sailboat that you see on a neonatal CXR?
the thymus :)
If your suspicious of a phagocyte disorder what do you look up?
CD11/18 flow cytometry serial neutrophil counts G6PD MPO Bactericidal assay (function) IgE
When does pneumonia in childhood become a red flag?
the third !!!
If someone says they had pneumonia what do you want to ask?
was there a chest xray done
There are 14 serotype pneumococcal titers and (blank) out of 14 is considered normal
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