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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