FUNCTIONAL LEUKOCYTE ALTERATION Flashcards
Jobs Syndrome Aka _____
Autosomal Dominant Hyper immunoglobulin E Syndrome
Job Syndrome is a mutation in what gene
STAT 3 GENE
Problem in Job Syndrome
Directional Motility is impaired,cell response to chemotactic is slow
Clinical features of Job Syndrome
Triad
- pneumonia
- recurrent pulmonary tissue abscess
- elevated Ig E levels
Blood and Tissue Eosinophilia
both random and direct movement is impaired
Lazy Leukocyte Syndrome
neutropenia is a consistent finding, cells fails to respond to inflammatory stimuli but appears to have normal phagocytic and bacterial activity
Lazy Leukocyte Syndrome
Clinical features of Lazy Leukocyte Syndrome
low grade fever
recurrent infections
Lazy Leukocyte Syndrome contain a defective what
Defective actin filaments resulting to defective chemotaxis
group of disorders involving inheritance or either x-linked or autosomal recessive gene that affects neutrophils microbicidal function
Chronic Granulomatous Disease
Symptoms of CGD (7)
recurrent suppurative infection
pneumonia
osteomyelitis
draining adenopathy
liver abscess
dermatitis
hypergammaglobilinemia
Two test for CGD
- Nitroblue tetrazolium reduction test
- flow cytometry assay
main problem of CGD
decreased ability of phagocyte to produce superoxide and reactive oxygen species
CGD is a mutation in what gene
NADPH Oxidase leading to neutrophil incapable of generating oxidative burst
Nitroblue tetrazolium reduction test normal result
reduce the Yellow water soluble
Nitroblue Tetrazolium to a dark blue insoluble formazan
Nitroblue tetrazolium reduction test abnormal result
It will not reduce the yellow and will RETAIN AS YELLOW
flow cytometry Labelled with
dihydrorhodamine (DHR)
flow cytometry result
DHR will fluoresce = reduces
Myeloperoxidase Deficiency
Aka:
Alius-Grignaschi Anomaly
Benign inherited disorder that is usually transmitted by autosomal recessive genes
Myeloperoxidase Deficiency
in Myeloperoxidase Deficiency
Bacteria killing is slowed but complete
COMPENSATION:
RESPIRATORY BURST ACTIVITY INCREASED
MAIN PROBLEM in Myeloperoxidase Deficiency
absence of MPO enzyme from neutrophil and monocytes but not eosinophils
a
Myeloperoxidase Deficiency Seen on patients with
acute and chronic leukemia, myelodysplastic syndrome, Hodgkin disease and carcinoma
Inherited, autosomal recessive trait
Chediak - Higashi Syndrome
Chediak - Higashi Syndrome is a mutation in what gene
CHS1 LYST gene on chromosome 1q42.1-2
Abnormally large lysosomes = contain fused dysfunctional granules
Chediak - Higashi Syndrome
clinical manifestations of CHS
hypo pigmentation/partial albanism
severe immune deficiency
neurologic abnormalities
mild bleeding tendencies
Autosomal recessive
Inability of WBCs to move from the circulation to the site of inflammation
Leukocyte Adhesion Deficiency
LAD Type I
.
Mutation in
ITGB2 gene encoding for CD18 subunit of Beta-2 integrins
Clinical Manifestations of LAD type 1
Skin and mucosal infections
Lymphadenopathy, splenomegaly
Delayed cord separation Leukocytosis
Tissue neutropenia
defective adhesion to endothelial cells
LAD TYPE 1
LAD Type II
mutation in what gene
SLC35C1 gene encoding for fucose transporter necessary for selectin ligand synthesis
Normal Beta2 integrins
defective leukocytes rolling
LAD TYPE 2
associated with bombay blood group
LAD TYPE 2
clinical manifestation pf LAD TYPE 2
recurrent infection
LAD Type III
* Mutation in
FERMTS3 gene encoding for kindlin-3
-Defective Beta integrin activation
-Defective leukocyte rolling, activation
LAD TYPE 3
LAD TYPE 3 Decreased in what
platelet integrin GPIIbBeta3
Normal integrin expression but failure to response to external signals
LAD TYPE 3
LAD TYEP 3 Clinical Manifestations:
Mild LAD I-like immunodeficieny
Recurrent infections
Bleeding
Tay sach syndrome is a mutation in what gene
HEXA GENE
