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34 Cards in this Set
- Front
- Back
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-3 yr old, recurrant oral thrush
-Lots of pneumonia history -Low set ears, hypertelorism |
DiGeorge Syndrome
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Another name for DGS:
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-22q11 microdeletion syndrome
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Significance of the genetic defect of dgs:
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Most common microdeletion
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What does Tbx1 affect?
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Midline organs
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Why is DGS called CATCH22?
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-Cardiac defects
-Abnormal facies -Thymic hypoplasia -Cleft palate -Hypocalcemia 22q11 microdeletion |
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What are 3 immunological defects that will be seen in 22q11 microdeletion syndrome?
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-Recurrent infections
-Low/Abnormal Ig levels -Autoimmune disease |
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How is the microdeletion detected in DGS?
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FISH
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How are lymph numbers analyzed? Why?
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With a lymphocyte SUBSET analysis - the CBC is not sufficient!!
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How many DGS patients have complete DiGeorge with no Tcells?
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Only 1%
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What will be seen if the patient DOES have complete DGS?
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Mortality by 3 years old
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What is required for treating complete DGS?
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Allogeneic thymus transplant
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What will be found in 10-28% of cases?
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That a PARENT has DGS too
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-Longstanding recurrent fevers
-Nonhealing skin lesions -Mouth sores, skin sores, poor wound healing, ulcers w/o pus |
Leukocyte Adhesion Deficiency
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-3 week old male
-Acute respiratory distress -Nonhealing skin infections, male relative died after birth: |
SCIDS
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4 features to see in 1st-year infections in SCIDS patients:
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ROPS
-Recurrent (bact/viral/fungal) -Opportunistic (PCP, CMV) -Persistent (even w/ treatment) -Severe (sepsis, meningitis) |
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What will be seen on the CBC in SCIDs?
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-Decreased/absent Tcells
-Poorly functioning Bcells -Low IgG |
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Most important screening tool during the newborn period:
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LOW ABS LYMPH COUNT ALC
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What is a very low ALC highly suggestive of?
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SCIDs
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What confirms the diagnosis of SCIDs?
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Flow cytometry
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What is the most common type of SCIDs?
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Sporadic
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What is the most common type of GENETICly inherited SCIDs?
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X-linked
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What is the best treatment for SCIDs?
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Early diagnosis and BMT
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By what age is detection and BMT most useful?
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At 3.5 months of age
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15 year old female
-Recurrent sinusitis -Diarrhea -Giardia in stools |
Old: think Bcell
-Sinusitis: Bcell -Giardia: Bcell |
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What is it actually?
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CVID - Common variable immune deficiency
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3 yr old male
-Recurrent sinupulmonary infections -Long history of antibiotics -Dad died of pneumo at 30 yr old |
Bruton's agammaglobulinemia
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What is the defective gene and inheritance in Bruton's aggamaglob?
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Gene: Btk gene
Inheritance: X-linked |
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What is the lab diagnosis of Bruton's agammaglob?
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-Flow shows low/absent Bcells
-Antibodies very low or absent |
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1 yr old female
-Persistant diaper rash not responsive to treatment -Lesion grows Pseudomonas |
Neutrophil defect
-Autoimmune neutropenia |
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3 yr old male
-Persistent severe skin infections -Always on antibiotics -Pneumonia, enlarged lymph nodes |
CGD
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Lab diagnostic test for CGD:
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NBT shows no response when stimulated, or flow cytometry
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Do ONLY males get CGD? Why?
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No; because of lyonization females can have symptoms too.
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What is lyonization?
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Random inactivation of the X chromosome
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-Capillary problems
-Problems standing |
Ataxia telangiectasia
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