Rituximab and allogeneic stem cell transplant
How do you treat the accelerated lymphoma like stage of Chediak-Higashi?
Progressive peripheral neuropathy and severe lymphoma like condition
What severe symptoms develop in patients with Chediak-Higashi?
Large granules in the neutrophils
What cellular feature is seen in all patients with Chediak-Higashi?
Which gene is mutated in Chediak-Higashi?
Dihydrorhodamine flow and quantitative assay for super oxide production
How is CGD diagnosed?
What are the large obstructive masses in chronic granulomatous disease patients?
What is the treatment for chronic granulomatous disease with granulomas?
Chronic granulomatous disease
Which enzyme deficiency should you suspect in a patient with a brain abscess?
Pneumonia and liver abscess
Which two infectious sites are most common in chronic granulomatous disease?
Nocardia, staph aureus, serratia, aspergilla, burkholderia
Which infections are commonly seen in patients with chronic granulomatous disease?
Which enzyme is deficient in patients with chronic granulomatous disease?
Diabetes with high number of recurrent infections
Which comorbidity would make an MPO diagnosis stand out more clinically?
Nitroblue Tetrazonium (must be NEG)
Which test is used to diagnose chronic granulomatous disease?
Interferon – 1b
What treatment is FDA approved for chronic granulomatous disease?
Which gene is responsible for severe congenital neutropenia ?
What is another name for congenital neutropenia ?
Granulocyte growth factor
What is the treatment for severe congenital neutropenia?
CD8+ and CD57+
What is the flow cytometry profile of LGL ?
Giant inclusion bodies in lymphocytes
What is the pathognomonic feature of Chediak-Higashi syndrome?
Enterococcus catalase negative staph
Which organisms are chronic granulomatous disease patients not susceptible to?
Which laboratory test is best for NADPH oxidase deficiency in chronic granulomatous disease?
Interferon one beta
Which FDA approved therapy can be used in chronic granulomatous disease?
How is MPO deficiency diagnosed?
What complete blood count side effect can lithium causes?
Retention of neutrophils in the bone marrow
What those Myelokathexis mean?
4 leaf Clover
What does the neutrophil look like on a smear for patients with Myelokathexis?
Which neutrophil deficiency leads to increase in Candida infections?
Allogeneic stem cell transplant with Bactrim prophylaxis prior to transplant
How do you treat severe leukocyte adhesion deficiency?
Staph aureus, Aspergillus, Candida
Which bacterial or fungal organisms commonly inflicted patients of leukocyte adhesion deficiency?
Low pus and long healing times
What features will be seen in the wound with patients with leukocyte adhesion deficiency?
Delayed umbilicus separation
What physical feature on infants would suggest leukocyte adhesion deficiency as a diagnosis?
Which cell surface marker deficiency is responsible for leukocyte adhesion deficiency?
Which cell surface deficiency leads to leukocyte adhesion deficiency?
Severe Absolute neutrophil count less than 500 Very Severe- Absolute neutrophil count less than 200
What absolute neutrophil count defines severe and very severe aplastic anemia?
Genetic studies, dihydrorhodamine, nitroblue tetrazolium
Which 3 tests can make a diagnosis of chronic granulomatous disease?
What feature is seen on lymph nodes in patients with NADPH oxidase deficiency?
Which neutrophil disorder leads to elevated IgE levels and infections?
Severe congenital neutropenia is persistent past one year of age Autoimmune neutropenia usually resolves within 6 months Bone marrow biopsy on severe genital neutropenia shows maturation arrest at promyelocyte myelocyte stage
What is the best way to tell the difference between alloimmune neutropenia and severe congenital neutropenia?
Which commonly used monoclonal antibody causes delayed onset neutropenia?
What physical exam feature is notable in patients with Chediak-Higashi syndrome?