Immunodeficiencies Flashcards
A 6-month-old man is being evaluated for gingivitis, aphthous ulcers, recurrent pyogenic infections, and delayed umbilical stump separation since birth. He has had 2 admissions for Staphylococcus aureus sepsis so far. These episodes started with skin infections leading to bacteremia and sepsis.
Leukocyte adhesion deficiency
-delayed stump separation
- Leukocytosis in the absence of infection
Recurrent bacterial infections, oculocutaneous albinism, photophobia, nystagmus, and peripheral neuropathy
Chediak-Higashi syndrome is a rare disease caused by lysosomal transport protein mutation
Recurrent bacteremia and meningitis with Neisseria species
late complement component (C5-C9) deficiency
Disseminated MAC in south east asian woman. HIV is negative
IFN Gamma Receptor Deficiency (likely Auto-Ab if presented as adult)
atopic dermatitis, recurrent staph infections, recurrent pulmonary infections
-high IgE
Job’s syndrome - Stat1 deficiency
somtimes must give suppressive ABX
recurrent staph, aspergillus, burkholderia infections
How do you manage this underyling condition?
CGD - recurrent LIFE THREATENING INFECTIONS
-x-lined
Dx w/ dihydorhodamine (DHR) or nitroblue tetrazolium (NBT) test
Rx with actimmune (IFN-gamma 1b_)
C1-C4 defects results in?
Autoimmune disease (SLE, DLE)
C5-C9 defects result in?
Recurrent Neisseria infections
recurrent sinopulmonary infections, chronic diarrhea, autoimmune skin issues
CVID
(look for low IgG AND low A or M, also can check response to immunizations)
Treat infections, IVIg
47F recurrent episodes of bronchitis.
CVID
(look for low IgG AND low A or M, also can check response to immunizations)
Treat infections, IVIg
HIGH RISK FOR LYMPHOMA
wound dehiscence
CGD
recurrent salmonell and mycobacterial infections
IL-12 or IFN-gamma deficiency
