I-Cell Disease
- Autosomal recessive
- lysosomal storage disease caused by deficient enzyme (uridine diphospho-N-acetylglucosamine:N-acetylglucoseaminyk-1-phosphotransferase in the Golgi complex that tags lysosomal enzymes with mannose-6-phosphate
- lysosomal enzymes are secreted by the cell
- inclusion bodies prominent on electron microscopy
Glycogen degradation disorders
McArdle’s disease, Pompe’s diseases, Cori disease, Von Gierke’s disease
Refsum Disease
disorder in myelin formation due to a disorder in fatty acid oxidation or syntheses. Peroxisomes are involved in long-chain fatty acid metabolism so there is a disorder in peroxisomes in this disease.
- Presents with progressive neurologic damage at a young age
DiGeorge Syndrome
- Developmental failure of 3rd and 4th pharyngeal pouches
- 22q11 microdeletion
- Presentation: T-cell deficiency, lack of thymus, hypocalcemia, lack of parathyroid and abnormalities of heart, great vessels and face
SCID - Severe Combined Immunodeficiency
defective cell-mediated and humoral immunity Etiologies: cytokine recepto defects, adenosine deaminase deficiency, MHC class II deficiency
X-Linked Agammaglobulinemia
-complete lack of immunoglobulim due to disordered B-cell maturation
-due to mutated BTK - Bruton tyrosine kinase; X-linked
Presents with recurrent bacterial, enterovirus and giardia lamblia infections
- presents 6 months after birth, live vaccines (polio) must be avoided
CVID - Common variable immunodeficieny
- LOW immunoglobulin due to B-cell or helper T-cell Defects
- increased rish for bacterial, enterovirus and giardia lamblia infections
IgA Deficiency
- low serum and mucosal IgA - most common immunoglobulin deficiency
- increased risk for mucosal infection, especially viral
- present in celiac disease
Hyper-IgM Syndrome
- elevated IgM
- due to mutated CD40L or CD40
- class switching inhibited - Low IgA, IgG and IgE –> recurrent pyogenic infections especially at mucosal sites
Wiskot-Aldrich Syndrome
- Presents with Thrombocytopenia (increased bleeding), eczema and recurrent infections
- due to mutation in WASP gene; X-linked
C5-C9 complement deficiency
increased risk for Neisseria infection
C1 inhibitor deficiency
results in heriditary angioedeme - edema of skin and mucosal surfaces
Karyolysis
basophilia of chromatin fades
karyorrhexis
pyknotic nucleus undergoes fragmentation
pyknosis
nuclear shrinkage and increased basophilia
