Neutrophil Disorders

Neutrophil Disorders

Neutrophil Disorders Part 1

Which neutrophil defective disease is associated with lower pus formation besides leukocyte adhesion
deficiency?

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Neutrophil specific granular disease

Neutrophil Disorders Part 1
Neutrophil Disorders

Which mutation is responsible for Chidiak-Higashi?

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LYST

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Neutrophil Disorders

What rare complication can Chidiak-Higashi patients die form?

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Lymphoma like progressive disease

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Neutrophil Disorders

What genetic mutation is seen with cyclic neutropenia?

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ELA2

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Neutrophil Disorders

What treatment is FDA approved for chronic granulomatous disease?

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Interferon – 1b

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Neutrophil Disorders

Which test is used to diagnose chronic granulomatous disease?

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Nitroblue Tetrazonium (must be NEG)

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Neutrophil Disorders

Which comorbidity would make an MPO diagnosis stand out more clinically?

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Diabetes with high number of recurrent infections

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Neutrophil Disorders

Which enzyme is deficient in patients with chronic granulomatous disease?

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NADPH oxidase

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Neutrophil Disorders

Which infections are commonly seen in patients with chronic granulomatous disease?

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Nocardia, staph aureus, serratia, aspergilla, burkholderia

Neutrophil Disorders
Neutrophil Disorders

Which two infectious sites are most common in chronic granulomatous disease?

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Pneumonia and liver abscess

Neutrophil Disorders
Neutrophil Disorders

Which enzyme deficiency should you suspect in a patient with a brain abscess?

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Chronic granulomatous disease

Neutrophil Disorders
Neutrophil Disorders

What is the treatment for chronic granulomatous disease with granulomas?

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Steroids

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Neutrophil Disorders

What are the large obstructive masses in chronic granulomatous disease patients?

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Granulomas

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Neutrophil Disorders

How is CGD diagnosed?

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Dihydrorhodamine flow and quantitative assay for super oxide production

Neutrophil Disorders
Neutrophil Disorders

Which gene is mutated in Chediak-Higashi?

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LYST

Neutrophil Disorders
Neutrophil Disorders

What severe symptoms develop in patients with Chediak-Higashi?

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Progressive peripheral neuropathy and severe lymphoma like condition

Neutrophil Disorders
Neutrophil Disorders

How do you treat the accelerated lymphoma like stage of Chediak-Higashi?

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Rituximab and allogeneic stem cell transplant

Neutrophil Disorders
Neutrophil Disorders

What cellular feature is seen in all patients with Chediak-Higashi?

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Large granules in the neutrophils

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Neutrophil Disorders

How do you treat severe leukocyte adhesion deficiency?

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Allogeneic stem cell transplant with Bactrim prophylaxis prior to transplant

Neutrophil Disorders
Neutrophil Disorders

Which neutrophil deficiency leads to an increase in Candida infections?

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Myeloperoxidase deficiency

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Neutrophil Disorders

What morphologic features does a neutrophil have on a peripheral smear for patients with Myelokathexis?

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4 leaf clover appearance

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Neutrophil Disorders

What defines Myelokathexis ?

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Retention of neutrophils in the bone marrow

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Neutrophil Disorders

What complete blood count side effect can lithium cause?

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Leukocytosis

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Neutrophil Disorders

How is MPO deficiency diagnosed?

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Flow cytometry

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Neutrophil Disorders

Which FDA approved therapy can be used in chronic granulomatous disease?

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Interferon one beta

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Neutrophil Disorders

Which laboratory test is best for NADPH oxidase deficiency in chronic granulomatous disease?

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tetrazolium

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Neutrophil Disorders

Which organisms are chronic granulomatous disease patients not susceptible to?

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Enterococcus catalase negative staph

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Neutrophil Disorders

What is the pathognomonic feature of Chediak-Higashi syndrome?

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Giant inclusion bodies in lymphocytes

Neutrophil Disorders
Neutrophil Disorders

What is the flow cytometry profile of LGL ?

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CD8+ and CD57+

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Neutrophil Disorders

What is the treatment for severe congenital neutropenia?

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Granulocyte growth factor

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Neutrophil Disorders

What is another name for congenital neutropenia ?

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Kostman syndrome

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Neutrophil Disorders

Which gene is responsible for severe congenital neutropenia ?

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ELA2

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Neutrophil Disorders

What physical exam feature is notable in patients with Chediak-Higashi syndrome?

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Albinism

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Neutrophil Disorders

Which commonly used monoclonal antibody causes delayed onset neutropenia?

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Rituximab

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Neutrophil Disorders

How can you differentiate between alloimmune neutropenia and severe congenital
neutropenia?

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Severe congenital neutropenia is persistent past one year of age.

Alloimmune neutropenia usually resolves within 6 months.

Bone marrow biopsy for severe congenital neutropenia shows maturation arrest at promyelocyte myelocyte
stage.

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Neutrophil Disorders

Which neutrophil disorder leads to elevated IgE levels and infections?

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Job syndrome

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Neutrophil Disorders

What feature is seen on lymph nodes in patients with NADPH oxidase deficiency?

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Granuloma

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Neutrophil Disorders

Which 3 tests can corroborate a diagnosis of chronic granulomatous disease?

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Genetic studies, dihydrorhodamine, nitroblue tetrazolium

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Neutrophil Disorders

What absolute neutrophil count defines severe and very severe aplastic anemia?

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Severe Absolute neutrophil count less than 500
Very Severe- Absolute neutrophil count less than 200

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Neutrophil Disorders

Which cell surface protein deficiency leads to leukocyte adhesion deficiency?

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Beta-2 integrin

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Neutrophil Disorders

Which cell surface marker deficiency is responsible for leukocyte adhesion deficiency?

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CD11b/18

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Neutrophil Disorders

What physical feature on infants would suggest leukocyte adhesion deficiency as a diagnosis?

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Delayed umbilicus separation

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Neutrophil Disorders

What features can be seen in the wounds of patients with leukocyte adhesion deficiency?

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Low pus and long healing times

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Neutrophil Disorders

Which bacterial or fungal organisms commonly inflict patients with leukocyte adhesion deficiency?

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Staph aureus, Aspergillus, Candida

Neutrophil Disorders
Neutrophil Disorders Part 2

Which infectious organism is commonly seen in myeloperoxidase deficiency?

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Candida

Neutrophil Disorders Part 2
Neutrophil Disorders

Which chronic disease can increase the infection susceptibility of myeloperoxidase deficiency?

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Diabetes.

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Neutrophil Disorders

Which neutrophil deficiency is the most common?

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Myeloperoxidase

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Neutrophil Disorders

What are 2 physical exam features of severe leukocyte adhesion deficiency?

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Delayed umbilical cord detachment
Nonhealing ulcers

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Neutrophil Disorders

What prophylaxis should be used for patients with leukocyte adhesion deficiency?

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Bactrim

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Neutrophil Disorders

What is the baseline neutrophil count in patients with neutrophil leukocyte adhesion deficiency?

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2-3 times the upper limit of normal
Increases to 60,000 with infection

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Neutrophil Disorders

Which inheritance pattern is seen with leukocyte adhesion deficiency?

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Autosomal recessive

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Neutrophil Disorders

Which congenital neutropenia does not have an increased risk of myelodysplastic syndrome or acute
myelocytic leukemia?

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Cyclic neutropenia

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Neutrophil Disorders

How long can it take for autoimmune neutropenia to resolve in toddlers?

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Up to 2 years

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Neutrophil Disorders

How is leukocyte adhesion deficiency diagnosed?

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Flow cytometry for CD18 and CD11

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Neutrophil Disorders

Which protein mutation is responsible for leukocyte adhesion deficiency?

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Beta-2-Integrin

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Neutrophil Disorders

Name 5 congenital neutrophil disorders?

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Chronic granulomatous disease, Chediak-Higashi, myeloperoxidase deficiency, leukocyte adhesion
deficiency, neutrophil specific granular deficiency

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Neutrophil Disorders

Which congenital neutropenia is benign?

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Ethnic neutropenia

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Neutrophil Disorders

Which 2 diseases does neutrophil elastase mutation cause?

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Severe congenital neutropenia
Cyclic neutropenia

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Neutrophil Disorders

What common symptom or complaint is seen with Chidiak-Higashi?

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Peripheral neuropathy

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Neutrophil Disorders

How can you diagnose Chidiak-Higashi on a peripheral smear?

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Smears showing large intracellular granules

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Neutrophil Disorders

What disease can chronic granulomatous disease mimic?

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Crohn’s because of granulomas

Neutrophil Disorders
Neutrophil Disorders

Why can chronic granulomatous disease patients develop urinary obstruction?

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Large granulomas

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Neutrophil Disorders

What treatment can be added to antibiotics for chronic granulomatous disease infections?

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Steroids to reduce the inflammation and increase antibiotic penetration

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Neutrophil Disorders

Which pathogens are chronic granulomatous disease patients most susceptible to?

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Catalase positive bacteria including staph aureus, nocardia, Borrelia

Neutrophil Disorders
Neutrophil Disorders

What is the difference in the infection pattern of leukocyte adhesion deficiency versus chronic
granulomatous disease?

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Leukocyte adhesion deficiency – commensal bacteria from the skin and GI tract
Chronic granulomatous disease – environmental pathogens i.e. not within our body

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Neutrophil Disorders

Which enzyme deficiency is responsible for chronic granulomatous disease?

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NADPH

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Neutrophil Disorders

What is the inheritance pattern of severe chronic granulomatous disease?

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X-linked

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Neutrophil Disorders

How severe can myeloperoxidase deficiency be?

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Mild to no symptoms

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Neutrophil Disorders

Which monoclonal antibody can cause a delayed neutropenia?

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Rituximab

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Neutrophil Disorders

What is the purpose with respect to enzyme function for myeloperoxidase?

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Catalyzes the conversion of Chloride and hydrogen peroxide to chlorate anion and a proton

Neutrophil Disorders
Neutrophil Disorders

How can myeloperoxidase peroxidase deficiency be diagnosed?

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Peroxidase deficient flow cytometry

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Neutrophil Disorders

Which psychotropic medication can increase neutrophil counts?

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Lithium

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Neutrophil Disorders

Which genetic mutation is seen with X-linked CD40L deficiency?

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Hyper-IgM with neutropenia

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Neutrophil Disorders

What lab changes are seen with CD40L sufficient neutropenia?

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Elevated IgM

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Neutrophil Disorders

Which enzyme mutation is common with severe congenital neutropenia?

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Neutrophil elastase

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Neutrophil Disorders

What are the 2 forms of severe congenital neutropenia?

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Kostman- AR
Autosomal dominant form of severe congenital neutropenia

Neutrophil Disorders
Neutrophil Disorders

What diseases is LGL usually associated with?

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Autoimmune diseases including rheumatoid arthritis, lymphoma, solid tumors

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Neutrophil Disorders

What is a common age for autoimmune neutropenia?

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Younger than 2 years

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Neutrophil Disorders

What causes alloimmune neonatal neutropenia?

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Maternal IgG targeting paternal neutrophil surface antigen

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Neutrophil Disorders

What are 3 important autoimmune neutropenias to consider?

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Alloimmune neonatal
Autoimmune neutropenia of infancy
LGL

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Neutrophil Disorders

Which protozoal and tickborne diseases can cause severe neutropenia?

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Rickettsia and Leishmania

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Neutrophil Disorders

What is typical time to resolution of drug-induced neutropenia after discontinuation ?

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Resolves within 5-10 days

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Neutrophil Disorders

Which genetic mutation is responsible for neutrophil specific granule deficiency?

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CCAAT / enhancer binding protein

Neutrophil Disorders
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