Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
37 Cards in this Set
- Front
- Back
BTK gene |
Bruton agammaglobulinemia |
|
absent lymph nodes and tonsils |
Bruton agammaglobulinemia |
|
recurrent bacterial and enteroviral infections after 6 months |
Bruton agammaglobulinemia |
|
Anaphylaxis to blood product |
IgA deficiency |
|
acquired in 20s or 30s |
commune variable immunodeficiency |
|
increased risk of autoimmune, bronchiectasis, lymphoma |
commune variable immunodeficiency |
|
Absent thymus |
DiGeorge or SCID |
|
Decreased INF gamma |
IL12-R deficiency |
|
Decreased Th1 response |
IL12-R deficiency |
|
disseminated mycobacterial and fungal infections |
IL12-R deficiency |
|
STAT3 mutation |
Hyper IgE |
|
Deficiency of TH17 cells |
Hyper IgE |
|
cold staph abscesses |
Hyper IgE |
|
Retained primary teeth |
Hyper IgE |
|
Defective IL2-R
|
SCID |
|
adenosine deaminase deficiency |
SCID |
|
Failure to thrive and diarrhea |
SCID |
|
ATM gene |
Ataxis-telangiectasia |
|
ataxia, spider angioma, IgA deficiency |
Ataxis-telangiectasia |
|
Increased AFP |
Ataxis-telangiectasia |
|
CD40L defect |
Hyper IgM |
|
Severe pyogenic infections |
Hyper IgM |
|
PCP pneumo |
Hyper IgM or SCID |
|
WAS gene |
Wiskott-Aldrich |
|
thromocytopenic purpura and eczema |
Wiskott-Aldrich |
|
Increased IgE and IgA |
Wiskott-Aldrich |
|
LFA-1 (CD18) deficiency |
Leukocyte adhesion deficiency |
|
absent pus formation |
Leukocyte adhesion deficiency |
|
delayed umbilical cord separation |
Leukocyte adhesion deficiency |
|
recurrent bacterial skin and mucosal infections |
Leukocyte adhesion deficiency |
|
Increased neutrophils |
Leukocyte adhesion deficiency |
|
LYST gene defect |
Chediak-Higaski |
|
Giant granules in neutrophils |
Chediak-Higaski |
|
albinism, peripheral neuropathy, neurodegeneration |
Chediak-Higaski |
|
NADPH oxidase |
Chronic granulomatous |
|
Catalse + organisms |
Chronic granulomatous |
|
negative nitro blue test |
Chronic granulomatous |