Leukocyte Disorders

Question 1

Type 1 DM plus significant fungal infection

Answer 1

MPO deficiency

Question 2

ITGB2
Encodes CD18

Answer 2

Assoc with Leukocyte adhesion deficiency type 1
Auto recessive

Delayed umbilical cord separation, abscess lacking puss, poor wound healing

Question 3

WHIM syndrome mutation?

Answer 3

Auto dominant mutations in CXCR4
-increased response to SDF-1 ligand

Question 4

Neonatal alloimmune neutropenia

Answer 4

Caused by maternal IgG antibodies crossing the placenta- attacks fetal neutrophils antigens that are from dad

Question 5

IRAK4

Answer 5

Interleukin-1 receptor associated kinase 4

Lacks Toll-like receptor responses, frequent bacterial infections, rarely viral/parasitic

Question 6

Defects in p67phox

Answer 6

Dysfunctional oxidative burst
CGD innate immune defect

Question 7

Bombay blood group (absent H,A,B antigens)
Recurrent bacterial infections
Short stature

Answer 7

LAD type 2- pathogenic biallelic variant SCLC35C1
(Insufficient fucosylation of selectins)

Question 8

LYST mutations

Answer 8

Chediak- Higashi syndrome
- due to abnormal lysosomal biogenesis. Increased susceptibility to infections. Oculocutaneous albinism
-an accelerated phase with HLH is typically fatal