Hereditary WBC disorders

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