Flashcards in Immunodeficiencies Deck (37):
Which cells are part of the adaptive immune system?
T cells, B cells, and antibodies
Which cells are part of the innate immune system?
NK cells, Macrophages, and Complement
Age of onset 6-9 months? Think ___ disorder
6-12 month age of onset? Think combined
B cell and T cell disorder
Age over 12 months at onset of immunodeficiency?
B cell disorder
A good general first test in suspected immunodeficiency is
quantitative immunoglobulin test and CBC with diff
Don't forget that maternal antibodies can mask antibody defects for 6-9 months!
Generally, for humoral immunity defects, think ___ and treat with __
mucosal infections (sinopulmonary, GI) and treat w/ scheduled IVIG
Recurrent "normal" infections (sinusitis, otitis, pneumonia) that are frequent =
X-linked (Bruton's) Agammaglobulinemia (boys only!)
Confirm Bruton's XLA with ___ and treat with ___
flow cytometry (no B cells), treat w/ scheduled IVIG
Low IgA, IgG, but normal to high IgM =
Hyper-IgM syndrome; again, treat w/ scheduled IVIG
Anaphylactic rxn after blood transfusion =
Selective IgA deficiency
CVID can present in kids and adults and requires __ for diagnosis
deficiencies in at least 2/3 immunoglobulins
DiGeorge syndrome =
Where do the thymus and facial structures come from embryologically?
3rd and 4th pharyngeal pouch.
DiGeorge syndrome features =
Micrognathia, wide-spaced eyes, low set ears, absent thymic shadow, hypocalcemia; fungal or PCP infections are a huge red flag cuz this kiddo got no T-cells
DiGeorge kids should be treated with
PCP prophylaxis (TMP/SMX) and scheduled IVIG
Cure the immune defect in DiGeorge by doing
Why do DiGeorge kids have hypocalcemia?
Absent parathyroid glands (also can get seizures because of this)
Immunostudies in Wiskott-Aldrich show
Increased IgE and IgA!
How do Wiskott Aldrich kids do?
Not great, rarely survive into adulthood.
Treat Wiskott-Aldrich with
IVIG, splenectomy or bone marrow transplant, and manage eczema and bleeding
Telangiectasias + ataxia due to poor DNA repair =
Ataxia-Telangiectasia. Dr. Dustin says it's hella rare.
SCID kids functionally have
AIDS, so they need PCP prophylaxis. Also IVIG and bone marrow transplant.
Chronic granulomatous disease is a defect in
What organisms are kids with CGD more susceptible to?
Catalase positive ones like staph, staph, and staph. Also aspergillis and serratia!
Confirm CGD with what test?
Negative nitro blue test revealing an absent respiratory burst.
Treat CGD with
bone marrow transplant
Leukocyte Adhesion Deficiency is a problem with
Neutrophil migration, THUS, there's no PUS despite a massive fever and leukocytosis
Early sign of leukocyte adhesion defect is
delayed separation of the umbilical cord! Treat with BMT like everything else
How is Chediak-Higashi passed down?
Features of Chediak Higashi?
albinism, neuropathy, and neutropenia (Danny Chedia was not albino)
What will you see on peripheral smear in Chediak Higashi?
Giant granules in neutrophils.
Flow cytometry testing of neutrophil oxidative burst is gold standard of diagnosis
How to treat Chediak Higashi?
Treat infections (usually staph of skin) aggressively as they come
Hyper-IgE syndrome features peripheral ___
Features of Hyper IgE include
recurrent "cold" abscesses, eczema, retained primary teeth, fractures, and post-infectious pneumatoceles
If Neisseria is in the vignette, it's
C5-C9 Terminal Complement Deficiency