Immuno (immune deficiencies) Flashcards
What happens with no T cells?
Bacterial sepsis/CMV/EBV/VZV chronic infection and superficial candida
What happens with no B cells
Encapsulated bacterial infections, enteroviruses infections, Giardia infections given low IgA
What happens with no Granulocytes
staph, burkholderia, serratioa, nocardia, invasive candida
X-linked recessive disease w/ recurrent bacterial infections after 6 months
X-linked brutons agammaglobulinemia
Defect in BTK so no B cell maturation. No tonsils/Germinal centers seen. Normal pro-B with decreased maturation and decreased numbers of B cells/Igs
Which immunodeficiency produces false positive beta HCG?
selective IgA deficiency – due to presence of heterophile antibody
Which disease has normal number of B cells with decreased plasma cells and immunoglobulin?
Common variable immunodeficiency – increased risk of autoimmune disease, lymphoma, can be acquired as an adult
Which disease may present with disseminated mycobacterial infections?
IL-12 receptor deficiency – decreased TH1 response and therefore decreased IFN-gamma, so poor cell mediated immunity
What disease corresponds to coarse Faceies, cold staph abscesses, retained primary teeth, increased IgE, derm problems
Hyper-IgE syndrome (Job’s syndrome) = Th1 cells fail to produce IFN gamma so neutrophiles can’t respond to chemotactic stimuli
See increased IgE, my guess would be because of overactive TH2 cells
which disease presents with candida infections of skin and mucous membranes as well as endocrine dysfunction?
Chronic mucocutaneous candidiasis – T-cell dysfunction
Which mutations can lead to SCID?
X-linked defective IL-2 receptor, adenosine deaminase deficiency
ATM gene mutations and triad of findings =?
ataxia-telangiectasia = ataxia, spider angiomas, IgA deficiency w/ increased AFP
How does one come down with Hyper-IgM?
Defective CD40L on helper T cells, therefore B cells can’t class swith and patient gets severe pyogenic infections early in life
Patient has thrombocytopenic purpura, infections, and eczema.
Wiskott aldrich – X linked mutation in WAS gene leads to T cells unable to reorganize cytoskeleton.
See increased IgE, IgA, with decreased IgM
Little baby has delayed separation of the umbilical cord. Which infections is she susceptible too and what does she have?
Leukocyte adhesion deficiency – defect in LFA-1 integrin protein on phagocytes predisposes to recurrent bacterial ifnections and absent pus formation
Patient has recurrent pyogenic infections with giant granules in neutrophils
Chediak-Higashi syndrome – AR, defect in lysosomal trafficking regulator. Microtubule dysfunction in phagosome lysosome fusion. Also see partial albinism and peripheral neuropathy.