T cell deficiencies

Question 1

PCD is a innate/adaptive immunity defect?

Answer 1

innate

Question 2

T cell deficiencies presentiation

Answer 2

• respiratory distress, infection in child/infant (at birth), pneumonia, otitis
• GI infections, diarrhea, sepsis
• Cutaneous infections

Question 3

general and specific lab/imaging for t cell deficiency in baby

Answer 3

CBC (low lymphocyte count <2500 is diagnostic, <4000 is lymphopenic)

IgG: mom’s Abs (crosses the placenta) (614-1536 mg/dL)

IgA: (0-7 mg/dL)

IgM: 6-23 mg/dL)

chest xray

ULTIMATE: Flow cytometry to confirm cell surface markers indicating specific deficiency

Question 4

CD3

Answer 4

t cells

Question 5

CD4

Answer 5

t cells

Question 6

CD8

Answer 6

t cells

Question 7

CD16/56

Answer 7

NK cells

Question 8

CD19

Answer 8

B lymph antigen

Question 9

Opportunistic organisms for T cell deficiencies

Answer 9

candida albicans (diaper rash presentation)
pneumocystis jirovecii
varicella-zoster
adenovirus
parainfluenza
herpes virus
CMV
rotavirus
measles
norovirus
EBV 

Vaccines (Polio, rotavirus, varicella, and BCG) not given in these individuals or to those around these individuals.

Question 10

T cell engraftment: CD memory phenotype is CD##_ _ whereas normal infant T cells are naive and CD##_ _

Answer 10

• memory phenotype is CD45RO

- naive T cells in infant is CD45RA

Question 11

Worst form of SCID?

Answer 11

ADA deficiency (Adenosine Deaminase Deficiency) T-, B-, NK-

accumulation of toxic purine metabolites

Question 12

RAG1/RAG2 (T-, B-, NK+)

Answer 12

involved with RAG-1 and RAG-2 (involved in joining the VDJ with the 12/22Base pair separation)

Also presents with Omen Syndrome (leaky SCID)