Congenital Immune Deficiencies Flashcards
List signs of a possible immunodeficiency.
4+ new ear infections / 1yr
2+ serious sinus infections / 1yr
2+ mo of antibiotics with little effect
2+ pneumonias/ 1year
failure to gain weight or grow normally
recurrent, deep skin or organ abscesses
persistent thru in mouth or fungal infection on skin
need for IV antibiotics to clear infections
2+ deep seated infections including septicemia
a family history of primary immunodeficiencies
+ increased risk of autoinflammation, autoimminty and neoplasia
What are the two most common types of primary immunodeficiency?
antibody deficiency 65%
combined cellular and antibody deficiency 15%
Describe the types of infections and the lab tests that could confirm B-cell immune deficiency.
recurrent sinopulmonary infections or sepsis
infections with encapsulated organisms
chronic enteroviral meningoencephalitis
immunoglobulin levels
specific antibody titers
flow cyotmetry
as in X-linked agammaglobulinemia
Common variable immunodeficiency
selective IgA deficiency
Describe the types of infections and the lab tests that could confirm T-cell immune deficiency.
opportunistic infections
recurrent and severe common infections
failure to thrive
CBC with differential flow cytometry T cell functional study immunoglobulin levels FISH for DiGeorge
as see in DiGeorge Syndrome
Wiskott Aldrich Syndrome
SCID (B and T cell)
CID
Describe the types of infections and the lab tests that could confirm phagocytic immune deficiency.
soft tissue abscesses or lymphadenitis
infections with catalase + orgs (Staph. aur, Serrate, aspergillum)
poor wound healing
CBC with differential
Neutrophil oxidative burst assay
flow cytometry for adhesion molecules
chronic granulomatous disease
leukocyte adhesion defect
Describe the types of infections and the lab tests that could confirm complement immune deficiency.
CH50 measures entire classical complement cascade
AH50
classical complement deficiency
alternative complement defect
Describe the types of infections and the lab tests that could confirm innate defect immune deficiency.
septicemia
poor inflammatory response
TLR signaling
IRAK 4 mutation
NEMO mutation
MyD88 mutation
How does newborn screen for SCIDs work?
PCR assay looks for splicing/ excision sequence that is a bi-product of thymal hematopoiesis to determine if the thymus is functioning, flow cytometry can be used to confirm diagnosis`
What is the tx. for SCID?
caused by many different genetic mutations,universally fatal within first year without immune construction: bone marry transplant, gene therapy (enzyme replacement), PEG-ADA and/or thymic transplant
What abnormalities may be noticed with a patient with DiGeorge?
conotruncal cardiac anomaly (tetralogy of fallot)
hypo plastic thymus (absolute lymphocytes will be abnormally low, some variance in immune function phenotype)
hypcalcemia
caused by teratogen that inhibits neural crest migration due to 22q11.2 microdeletion
Describe immunologic treatment for DiGeorge syndrome.
serial immunologic monitoring
guidance on live vaccine admin
thyme transplant for complete syndrome
Describe the pathology of Common Variable Immunodeficiency.
male or female patient who has marked decrease of IgG and a marked decrease in at least one of the isotypes IgM or IgA and fulfills all the following:
- onset of immunodeficiency at greater than 2yo
- absence of isohemaglglutinins or poor response to vaccines
- defined causes of hypogammaglobulinemia have been excluded
increased incidence of lymphoid malignancy, auto immune disease and atopy
most commonly diagnosed primary immunodeficiency
What are the treatments available for CVD?
gamma globulin therapy
aggressive antibiotics for bacterial infections
immunosuppression of autoimmune manifestations
end organ damage can be treated with immune suppression
bone marrow transplant risk has not been shown to out weight benefits
What are the striking characteristics of Wisckott-Aldrige Syndrome.
primary dysfunction with the cytoskeleton that causes the receptor and co-receptor coordination to be a problem (Wiskott-Aldrich syndrome protein: “multitasked of the immune system”)
platelets less than 50,000
mean platelet volume is less than 5fl (pathognomic)
lymphopenia
IgA and IgE are frequently increased
normal - low IgM and IgG
dx is done via flow cytometry
What are the treatments available for WAS?
prophylactic antibiotics and antivirals to prevent infection
gamma globulin replacement in patients with significant antibody deficiency
curative options for WAS patients include hematopoietic stem cell transplantation and genet therapy
