Flashcards in Immune deficiencies Deck (18):
What three disorders effect ONLY B cells?
Selective IgA deficiency
Common variable immunodeficiency
A mother comes in with her 9-month boy concerned about how many bacterial infections her son has had in the last 3 months. What should be expected?
(male patient; started having recurrent bacterial infections after his mom's Ig's wore off at 6mo)
What is the defect in Bruton agammaglobulinemia?
X-linked recessive defect in BTK...a tyrosine kinase gene → NO B cell maturation → NO Ig's
A patient who has has a history of multiple sinus and lung infections experiences anaphylaxis after a blood transfusion. What does this patient likely have?
IgA selective immunoglobulin deficiency
What three disorders effect ONLY T cells?
Thymic aplasia (DiGeorge syndrome)
IL-12 receptor deficiency
Chronic mucocutaneous candidiasis
A mother brings her child in concerned about recurrent viral, fungal, and protozoal infections. You notice that the child's face has some abnormalities and he has facial spasms after you tap his cheek. What chromosomal abnormality does this child likely have? What is likely to be seen on CXR?
DiGeorge syndrome often has a chromosome 22q11 deletion
CXR will show an ABSENT thymic shadow
IL-12 receptor is an autosomal recessive disorder. What kind of infections would be expected?
Mycobacterial d/t ↓IFN-γ
A patient comes in concerned about how many candida infections she has had. What is likely causing her recurrent infections?
T cell dysfunction...chronic mucocutaneous candidiasis
What are four disorders of phagocyte dysfunction?
Autosomal dominant hyper-IgE syndrome (Job syndrome)
Leukocyte adhesion deficiency (type I)
Chronic granulomatous disease
FATED: a patient presents with coarse F-acies, cold staph A-bscesses, retained primary T-eeth, ↑ Ig-E, and D-ermatologic problems (eczema).
Job syndrome (Autosomal dominant hyper-IgE syndrome)
A mother brings in her child because he has had multiple skin and mucosal infections that are slow healing and non purulent. She also remembers that his umbilical cord hung around a lot longer than his siblings' did. What is the likely defect? What would be seen in the serum?
Leukocyte adhesion deficiency is caused by an autosomal recessive defect in LFA-1 integrin (CD18) on phagocytes → impaired migration and chemotaxis
Increased neutrophils in CBC...but absence of neutrophils at infection site
A dad brings in his daughter, who has partial albinism, because she has had recurrent respiratory tract and skin infections and has neurological disorders. What is causing this patient's symptoms?
Chediak-Higashi syndrome is an autosomal recessive defect in lysosomal trafficking regulator gene (LYST) → microtubule dysfunction in phagosome-lysosome fusion
(giant granules in neutrophils and platelets; pancytopenia; mild coagulation defects)
What causes chronic granulomatous disease? Susceptibility is increased for which pathogens?
X-linked recessive defect of NADPH oxidase
Oxidase(+) organisms (PLACESS)
P-seudomonas, L-isteria, A-spergillus, C-andida, E-coli, S-aureus, S-erratia
What are four B and T cell disorders?
Severe combined immunodeficiency (SCID)
What is the one cause of SCID you should know for this test?
Adenosine Deaminase Deficiency
What causes Wiskott-Aldrich syndrome? What is the mnemonic for Wiskott-Aldrich syndrome? What does it stand for?
X-linked recessive disorder...T cells can't reorganize actin cytoskeleton
E-czema (on trunk)
What causes ataxia-telangiectasia? What are the signs/symptoms? What are the concerns?
Ataxia-telangiectasia is d/t a defect in the ATM gene → dsDNA breaks → cell cycle arrest
Three A's: A-taxia, spider A-ngiomas, Ig-A deficiency
Increased cancer risk (lymphoma/leukemia) and radiation sensitivity (avg age at death...25yo)