Inflammation 2.3: 1a Immunodeficiency Flashcards
Ca++ status in DiGeorge? Why?
hypocalcemia bc of lack of parathyroid glands
T-cell status in DiGeorge? Why?
deficient; lack of thymus
Heart findings in DiGeorge?
Tetralogy of Fallot, VSD, great vessel abnormalities
T-cell deficiency –> problems fighting ____ and ____.
viruses; fungi
4 parts to Tetralogy of Fallot?
- pulmonic stenosis
- increased thickening of the right ventricle
- VSD
- overriding aorta
Tetralogy of Fallot heart sounds?
normal S1 and S2 with a blowing systolic murmur
What is defective in SCID?
cell mediated and humoral immunity (both B cells and T cells)
Name 3 etiologies causing SCID.
- cytokine receptor defects
- adenosine deaminase deficiency (auto recessive)
- MHC Class II deficiency
What is the inheritance of SCID?
either X-liked or auto recessive
Why is adenosine deaminase deficiency bad?
build-up of adenosine and deoxyadenosine within lymphocytes –> lymphocyte toxicity
What is the job of the CD4+ T-cell?
to help CD8+ T-cells and B cells become activated
SCID pts are susceptible to _____.
fungal, viral, bacterial, and protozoal infections
What is the tx for SCID?
sterile isolation and stem cell transplants
How does SCID present in an infant?
failure to thrive, chronic diarrhea, thrush
What causes X-linked agammaglobulinemia?
disordered B cell maturation (naïve B cells can’t mature into plasma cells) due to a tyrosine kinase mutation
How does X-linked agammaglobulinemia present?
enterovirus, bacteria, and Giardia infections AFTER age 6 mos
What is deficient in CVID ?
low Igs bc B-cells and Th cells are defective
Helper T cells produce ____ and ____ to help B cell growth, maturation, and class switching.
IL-4 and IL-5
How does CVID present?
usu. asymptomatic, but susceptible to enterovirus, bacteria, and Giardia infections IN LATE CHILDHOOD
CVID pts are at increased risk for _____.
autoimmune diseases and lymphoma
What is the most common Ig deficiency?
IgA
What is mutated in Hyper IgM syndrome?
CD40L or CD40 receptor
Name 2 ways B cells can be activated.
- naïve B cell binds an antigen to the IgM receptor
- B cell internalizes and presents antigen on MHC2 to a CD4+ T-cell, PLUS CD40 binds to the T-cell to activate it and produce IL-4 and IL-5, which mature and cause class-switching of the B cell
What do low Igs in Hyper IgM Syndrome cause?
recurrent pyogenic infections, esp at mucosal sites
What are the symptoms of Wiskott-Aldrich Syndrome?
- thrombocytopenia (increased risk of bleeding)
- eczema
- recurrent infections (both humoral and cell mediate immunity deficient)
What causes Wiskott-Aldrich Syndrome? What is its inheritance?
mutation in WASP gene; X-linked
C5-C9 deficiency causes increased risk of ____.
Neisseria infections
C1 inhibitor deficiency causes increased risk of ____.
edema of skin (periorbital) and mucosal surfaces (Hereditary Angioedema)
