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34 Cards in this Set

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