Infant w/ delayed umbilical cord separation and recurrent infections
Disease?
Missing Protein?
WBC count?
LAD-1
LFA-1 - defective diapedesis
high WBC's, just can't get to infection
Pt with Albinism
Name Disease
Describe defective mechanism
Chediak-Higashi
Abnormally large granules, can't fuse lysosome with phagosome
can't kill microbes --> defective granules
Pt with a negative NBT reduction test
Name disease
Defective Enzyme
Describe issue
Chronic Granulomatous Disease
NADPH oxidase
defective oBoyxidative burst in neutrophils, so macrophages form granulomas to compensate
Infant with thrush and diaper rash
Name?
Treatment?
Which cells are depleted?
Most common mutations?
SCID
treat with BMT
T and B cell depletion
IL-2 receptor mutation (X-linked) or ADA deficiency (AR)
Infant with no tonsils or palpable lymph nodes, normal T cell count, recurrent infections
Name?
Inheritance Pattern?
Problem?
Treatment?
Bruton's Agamaglobulin
Boys (X-linked)
B cells can't mature --> can't rearrange light chains
Ig replacement, good prognosis
Older patient with GI tract infiltration, recurrent pyogenic infections, hemolytic anemia, thrombocytopenia, neutropenia
Name?
Common Mutations w/ inheritance pattern
What Ig's do they have if any?
Hyper-IgM Syndrome
CD40L mutation (X-linked R)
B Cell switching enzymes (AR)
Normal or high levels of IgM, no IgG or other Ig's
Young adult with low IgG and recurrent infections
Name?
Lab findings?
At risk for..?
Common Variable Immunodeficiency
Normal B cells, hyperplastic lymphoid follicles
Pt with a blood transfusion has severe anaphylaxis
Name?
Issue?
Isolated/Selective IgA Deficiency
No IgA switching
IgG and IgM increase to compensate
Persistent Epstein-Barr Virus
X-linked Lymphoproliferative Syndrome
Coarse Facies, abcesses, retained primary teeth, eczema
Name?
Lab findings?
Job's Syndrome or Hyper IgE Syndrome
High IgE, Low IFNy
Thrombocytopenia, immunodeficiency, eczema
Name?
Inheritance?
Treatment?
At risk for?
Wiskott-Aldrich Syndrome
X-linked R
BMT
non-Hodgkin's Lymphoma
Spider Angiomas, Ataxia, low IgA, abnormal gait, increased AFP
Name?
Inheritance?
Problem?
Ataxia Telangiectasia
AR
DNA repair affected in B and T cells