Diebel- Diseases of the Immune System Flashcards
Congenital Neutopenia
Decrease in Neutrophils
ELA-2
Bacterial Infections
Chronic granulomatous disease
NADH oxidase
Increased ROS
Susceptibility to catalase + orgs
Leukocyte adhesion Def
LFA-1 Integrin
Can’t recruit immune cells
Increased vacterial, viral, fungal infections
Chediak higashi syndrome
Lysosome won’t fuse w/ phagosome
LYST (CHS1) lysosomal trafficking gene
Increased susceptibility to bacterial infections
Wiskott Aldrich Syndrome
WAS gene
T cell unable to reorganize actin cytoskeleton.
Immune cells can’t become activated
Infections and eczema
Transient hypogammaglobulinemia of infancy
CD40L on helper T cells
Can’t class switch–> IgM but no IgG until 3
Severe pyrogenic infections
ADA SCID
No ADA.
Toxic conc of metabolites–> no B and T cells
Increased susceptibility to ALL infections
Brutons aggamoglobulinemia
Boys
BTK
B cells won’t mature
Bacterial infections after 6 months (when mom’s IgG disappears)
CVID
Defect in B cell maturation
PNP Deficiency
PNP
toxic metabolites affect T cell development
SCID
DiGeorge’s Sydndrome
22a11 deletion
No thymus
decreased t cells
recurrent viral and bacterial infections
ALL- acute lymphocytic lymphoma
Disorder in B and T cell progenitors
Proliferation of blast cells
Decreased hematopoietic cells
Anemia, neutropenia, thrombocytopenia
AML- acute myeloid lymphoma
Accumulation of abnormal blast cells (granulocytes)–> abnormal prod of RBC and platelets
Anemia and thrombocytopenia
CLL
Accumulation of mature CD5 + B cells
Lymphadenopathy
Splenomegaly
CML
Philadelphia chromosome
bone marrow makes tyrosine kinase and too many cells triggered to become WBC
Fatigue, decreased tolerance for exertion, early satiety, ab pain
