DiGeorge
DiGeorge is caused by microdeletion of which chromosome?
22q11.2
Does hypocalcemia increase or decrease threshold potential?
Decrease
Early onset seizures = within ___ hours of life.
72
What is medical emergency in infants and is fatal without treatment?
SCIDs
Primary type of immunodeficiencies affecting humoral immunity.
B cell deficiencies
Which pharyngeal pouches are involved in DiGeorge syndrome?
3rd & 4th
PTH is released when serum Calcium is ____.
Low
Most common cause of neonatal seizures.
HIE: Hypoxic Ischemic Encephalopathy
Avoid _____ vaccines if T-cell function severely impaired.
Live-attenuated
B cell deficiencies create increased risk for what types of infections?
bacterial infections (esp encapsulated), GI & respiratory tract infections
Chance of passing on DiGeorge if you have it.
50%
Which tissues/organs are targeted by PTH?
Bones, Kidneys, GI
List two electrolytes that can cause seizures when low.
Glucose, calcium, magnesium, sodium
What are 2 signs/symptoms of SCIDs?
Recurrent severe infections, failure to thrive, chronic diarrhea, persistent thrush, no palpable lymph nodes/tonsils
Which cell is required for B cell maturation?
BTK (Bruton Tyrosine Kinase)
90% of DiGeorge cases are due to __________deletion.
de novo
What does PTH activate in order to help intestinal absorption of calcium?
Vit D
Signs of intracranial infection in infants.
Poor feeding, temperature instability, lethargy, bulging fontanelle
What determines severity of SCIDs?
Functioning/lack of functioning of NK cells
Which B cell deficiency has onset in teens-young adults?
CVID (Common Variable Immunodeficiency)
What are 3 of the 5 features of DiGeorge (HINT: CATCH-22)?
Cardiac defects, Abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia
In which organ is 25-hydroxyvitamin D converted to its active form (1, 25-dihydroxyvitamin D)?
Kidney
If there is no clear cause of infant seizures, what should you suspect next?
Inborn errors of metabolism or structural brain abnormality
What newborn screening is done for SCIDs?
TREC assay (T-cell receptor excisions circles)
In which type of B cell deficiency should you avoid giving IVIG?
Selective IgA Deficiency-> IgA attacked like foreign antibody-> Risk of anaphylaxis