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Pelger-Huet anomaly is what kind of congenital condition
autosomal dominant
Neutrophils are hyposegmented with extra clumpy chromatin in all stages
Pelger-huet
Higher numbers of band cells in a normal CBC, you should be suspecting
pelger-huet
How do you confirm pelger huet
family studies
The issue with pelger huet is its mistaken as
can look like a left shift in infection
seen in leukemias and certain drug treatments
Alder Reilly anomaly
shows dark granulation in neutrophils that is considered normal
What is the dark granules in Alder-Reilly
mucopolysacharides that are partially digested
This granulation is considered normal in these cells
Alder Reilly anomaly
What is Alder-Reillys anomaly mistaken for
Toxic granulation
May- Hegglin Anomaly is characterized by
GIANT Dohle bodies
CBC/diff results:
large Plts
thrombocytopenia
gisnt dohle bodies
May-Hegglin anomaly
how is may-hegglin anomaly is inherited
autosomal dominant
This is considered normal for this patient
May Hegglin anomaly
giant plt
Chediak-Higashi is inherited
autosomal recessive
Chediak-Higashi is characterized by
fusion of primary and secondary granules in all granulated cells
Chediak-Higashi has other characteristic affecting the individual who has it, what are they
partial albinism
Photophobia
recurrent infections
This is considered normal but the cells dont phagocytize as they should
Chediak-Higashi
Chronic Granulomatous disease is inherited via
X linked recessive or Autosomal recessive
Cells look normal but what is the defect in Chronic granulomatous disease
There is no O2 superoxide, H2O2, and no killing of microorganisms
Someone with Chronic granulomatous disease has higher risks for infections. what are treatments
prophylactic antibiotics and anti-fungal agents when required
Bone marrow transplant
interferon or gene therapy
Nitroblue tetrazolium test turns blue, does this person have CGD
No
What is the color on a nitroblue tetrazolium test if the person has CGD
yellow or colorless
What is the other way to diagnose CGD
Chemiluminescence
Lipid storgage disorders are usually found in what community
Ashkenazi Jews
Gauchers disease is characterized by
deficiency in Beta-glucocerebrosidase, hepatosplenomegaly, macrophages in the liver unable to digest lipids
Gauchers cells are found in
Bone marrow, liver, lungs, and brain
Gauchers cells are a form of what
Macrophages
Gauchers cells
Cytochemically what is positive for gauchers
PAS (fat stains)
non-specific esterase
TRAP
Hairy cell disease
Niemann- pick (NP) is characterized by what
Deficiency in Sphingomyelinase
foamy cells filled with lipids
NP is inherited how
autosommal recessive
PHysically NP causes
delays in physical and mental development, hepatosplenomegaly, enlarged lymph nodes, chery spot in the macula, vacuolated lymphs
NP disease
Tay Sacs disease is characterized by
GM2 gangliosidosis enzyme deficiency causing lipid deposits in nerve cells
what physical abnormalities are found in Tay sachs
macular cherry red spot, vacuolated lymphs, CNS deterioration
Most common antibody deficiency is
IgA deficiency
Primary deficiency is a
innate deficiency in a cell or antibody
secondary deficiency is a
aquired through disease or treatment of a disease
Congenital aplastic anemia has what physical characteristics
fanconis-autosomal recessive
all three cell lines are low
thumb and arm abnormalities
small head or eyes
skeletal issues in the hips, spine, or ribs
severe combined immuno deficiency
failure of both B and T cell function
Wiskott-aldrich syndrome
X-linked recessive disorder
eczema, thrombocytopenia
T cells are depleted
Ataxia telangictasia
rare autosomal recessive, defective gene in DNA repair
lack of motor cordination
spidery vascular veins
both t and b cell abnormalities
Di Georges
complete or partial lack of thymus
decrease in T cells
B cell immunodeficiency
transient hypogammaglobulinemia
low antibodies
more prone to bacterial infections