WBC Flashcards
• Affects both cellular and humoral immunity
• Patients exhibits : ⇣ T cells, poorly functioning B cells,
hypogammaglobulinemia
• Gamma chain deficiency : mutations in IL2RG gene
(IL 2,4,7,9,15,21)
Severe Combined Immunodeficiency disorder (SCID)
• X linked disease
➢Wiskott-Aldrich Syndrome (WAS)
Caused by one of 400 mutations in the WAS gene : (⇣ levels of
WASp proteins)
➢Wiskott-Aldrich Syndrome (WAS)
⇣ B cells, T, NK cells, neutrophils, monocytes are dysfunctional
Wiskott-Aldrich Syndrome (WAS)
• Absence or decreased size of thymus
• Low number of T lymphocytes
22q11 Syndromes
✓DiGeorge Syndrome
✓Sedlackova syndrome
22q11 Syndromes
✓Caylor cardiofacial syndrome
✓Shprintzen syndrome
✓Conotruncal anomaly face syndrome
22q11 Syndromes
• Antibody deficiency
Bruton tyrosine kinase Deficiency
mutation in the CHS1 LYST gene on chromosome 1q42.1-2 that encodes
for a protein that regulates the morphology and function of LYSOSOME-related organelles.
Chédiak – Higashi Syndrome
Inclusions that resembles the fused lysosomal granules in CHS
Pseudo Chédiak – Higashi
Congenital neutropenia (CN)
Low neutrophil count
Congenital defects of phagocytes
• defects of motility
• inability of neutrophils and monocytes to move from circulation to the site of inflammation (called extravasation)
Leukocyte Adhesion Disorders
only curative
treatment of Leukocyte Adhesion Disorders
Hematopoietic stem cell transplant
Types of Leukocyte Adhesion Disorders:
LAD I, II, III, SDS
Defects of respiratory burst
Chronic Granulomatous disease (CGD)
• caused by mutations in genes responsible for proteins
that make up the reduced form of (NADPH) oxidase
• patients experience life-threatening catalase-positive bacterial and fungal infections
Chronic Granulomatous disease (CGD)
warts, hypogammaglobulinemia, infections, and myelokathexis syndrome
WHIM syndrome
patients experience recurrent bacterial infections and are highly susceptible to human papillomavirus (HPV) infection, which leads to NEVER, which can be widespread and resistant
to treatmen
WHIM syndrome
characteristic spectacle-like (“pince-nez”) morphology with
the nuclei attached by a thin
filament
Pelger-Huët Anomaly
• decreased nuclear segmentation and distinctive coarse chromatin clumping pattern
• affects ALL leukocytes
• mutation in the lamin beta-
receptor gene.
Pelger-Huët Anomaly
• associated with severe bacterial infections, HIV, tuberculosis, and mycoplasma pneumonia
Pseudo- or Acquired Pelger-Huët Anomaly
NUMBER OFCELLS AFFECTED>68%TYPES OF WBC AFFECTED
: ALL WBC LINEAGES
(TRUE) Pelger Huët Anomaly
NUMBER OF
CELLS AFFECTED:
<35
TYPES OF WBC AFFECTED:
Neutrophil only
PSEUDO PHA
granulocytes with large, darkly
staining metachromatic cytoplasmic
granules (large azurophilic granules)
Alder-Reilly Anomaly
T/F: Leukocyte function is affected in
Alder-Reilly
FALSE; NOT
characterized by variable:
•thrombocytopenia
•giant platelets
•large Döhle
body-like inclusions in
neutrophils, eosinophils,
basophils, and monocytes
May-Hegglin
Anomaly
What gene is mutated in
chromosome mutation in the on chromosome 22q12-13.3
MYH9 gene
Enumerate Lysosomal Storage
Disorders
Mucopolysaccharides, Gaucher’s disease, Niemann Pick Disease
deficient activity of an enzyme necessary for the deg- radation of
dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate
Mucopolysaccharidoses
the most common of the lysosomal lipid storage diseases?
Gaucher’s Disease
defect or deficiency in the catabolic enzyme beta-glucocerebrosidase
Gaucher’s Disease
Gaucher Disease has three subtypes. What is the most common subtype?
Subtype 1
deficiency of lysosomal hydrolase enzyme acid SPHINGOMYELINASE
Niemann-Pick Disease
neutrophils GREATER than ______ in adults or ____ in children
7.0x10^9/L and 8.5x10^9/L
- Neutrophilia
a decrease in the Absolute Neutrophil Count to less than ____ in white adults or ____ in
black adults
2.0x10^9/L or 1.3x10^9/L
-Neutropenia
Neutrophilia is can occur as a result of ______ shift in neutrophils
catecholamine-induced
