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54 Cards in this Set
- Front
- Back
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is shigella associated with neutropenia?
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no
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6 bacterial infections associated with neutropenia
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brucellosis
gram negative sepsis paratyphoid fever typhoid fever tularemia TB |
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4 mechanisms of neutropenia in bacterial infection
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complement mediated margination of neutrophils along endothelial surfaces
increased utilization of neutrophils marrow failure generation of IL-8, TNF alpha, IL-1beta (leads to margination) |
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what test would you do to evaluate suspicion of immune mediated neutropenia?
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anti-neutrophil antibody
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when does immune neutropenia of infancy resolve?
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spontaneously after median of 17 months
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what is kostmann's syndrome?
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severe congenital neutropenia
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what does bone marrow show in kostmann's syndrome?
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maturation arrest at promyelocyte-myelocyte stage
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what mutations have been identified in kostmann's syndrome?
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neutrophil elastase (60-80%)
WASP gene mutation (rare) GFI-1 (rare) |
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what is the therapy for Kostmann's syndrome?
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G-CSF (95% respond)
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what oral physical findings differenetiate kostmann's from immune neutropenia
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gingivitis
mouth ulcers |
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what is the genetic mutation in cyclic neutropenia?
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mutation in neutrophil elastase gene
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what are the bone marrow findings in cyclic neutropenia
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hypoplasia or myeloid maturation arrest
increased number of eosinophils |
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what comprises shwachman-Diamond Syndrome
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pancreatic insufficiency
neutropenia metaphyseal chondroplasia chemotaxis defect |
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what is the genetic mutation in cyclic neutropenia?
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mutation in neutrophil elastase gene
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what are the bone marrow findings in cyclic neutropenia
what cells can be increased |
hypoplasia or myeloid maturation arrest
increased number of eosinophils |
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what comprises shwachman-Diamond Syndrome
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pancreatic insufficiency
neutropenia metaphyseal chondroplasia chemotaxis defect |
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what comprises Cartilage Hair Hypoplasia
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AR
short limb dwarfism fine hair moderate neutropenia |
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dyskeratosis congenita
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x linked
nail dystrophy leukoplakia reticulated hyperpigmentation marrow hypoplasia neutropenia |
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glycogen storage disease - type 1B: gene defect
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impaired intracellular transport of glucose-6-phosphate by G6P translocase from cytosol to ER
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what BMP abnormality is seen with glycogen storage disease type 1B
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hypoglycemia
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job's syndrome aka..
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hyperimmunoglobulin E syndrome
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pathophysiology of job's syndrome
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defective IL12/ interferon gamma pathway leading to defective neutrophil chemotaxis and elevated IgE levels
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clinical manifestations of jobs syndrome
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eczema
skin infection sinus infection pulmonary infection candidal infection bone fractures teeth abnormalities (retention of primary teeth) hyperextensible joints |
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delayed cord separation is characteristic of:
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leukocyte adhesion deficiency
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what cell lines are affected in chediak higashi, what is the abnormality?
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defect: giant cytoplasmic inclusion
WBCs:neutrophils, monocytes, lymphocytes platelets melanosomes |
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treatment for chediak-higashi
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prophylactic bactrim
parental antibiotics for acute infections vitamin C BMT at or before accelerated phase |
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what does vitamin C do in patients with Chediak-higashi
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improve neutrophil motility
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what is a pelger huet anomaly? where is it seen
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bilobed nuclei in PMD
specific granule deficiency |
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what infections are individuals with chronic granulomatous disease at risk for developing?
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staph aureus
burkholderia serratia nocardia aspergillus candida |
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what happens in the NBT test?
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originally stain yellow, when neutrophils are activated blue granules appear
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what GI/GU findings are seen in CGD
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gastric outlet obstruction
urinary tract obstruction colitis |
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management of CGD
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prophylactic bactrim
itraconzole interferon - gamma granulocyte transfusions gene therapy BMT |
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what leukocyte disorder can occur as an acquired defect in M3 AML due to the 15/17 translocation?
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myeloperoxidase deficiency
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what leukocyte deficiency is associated with diabetes mellitus?
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myeloperoxidase deficiency
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what is the mechanism of neutropenia from phenytoin and phenobarbitol?
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metabolite mediated damage to the neutrophil
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what is the mechanism of neutropenia from phenothiazine?
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direct toxicity to neutrophils
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what is the mechanism of neutropenia from penicillin
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immunologic
anti-neutrophil antibody positive |
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how frequently does a nadir occur in cyclic neutropenia?
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21 +/- 4 days
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in what disorder is there a reduced conversion of dihydrorhodamine to rhodamine
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x linked chronic granulomatous disease
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do patients with leukocyte adhesion deficicency have neutropenia or neutrocytosis?
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neutrocytosis and leukocytosis
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what is the most common presenting feature of neutropenia?
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oral mucosal ulcerations and gingivitis
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what is the defective gene/protein in chediak higashi?
what chromosome? |
LYST found on chromosome 1q13
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what is the mutation C/EBP associated with?
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specific granule deficiency (sgd)
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deficient or reduced expression of CD11/ CD18 family of receptors on the neutrophil surface established the diagnosis of which neutrophil disorder?
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leukocyte adhesion deficiency
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where does maturational arrest occur in Kostmann's syndrome?
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promyelocyte
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what cytogenetic abnormality is seen in patients with Kostmann's who progress to MDS or AML?
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monosomy 7
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what is reticular dysgenesis? what level immunoglobulins seen?
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failure of stem cells to form both myeloid and lymphoid precursors
agammaglobulinemia |
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what ethnic group is cartilage hair hypoplasia seen in?
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Amish
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Name two leukoyte disorders where dwarfism is a feature.
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Schwachman-Diamond
Cartilage Hair Hypoplasia |
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what is the defect in dyskeratosis congenita?
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defect in DNA repair
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what is the accelerated phase in Chediak higashi
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massive proliferation of T lymphocytes in the liver, spleen and bone marrow resulting in worsening cytopenias
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what inborn errors of metabolism are associated with neutropenia?
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glycogen storage disease type 1B
methylmalonic acidemia isovaleric acidemia prioponic acidemia |
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why are WBC and neutrophil counts high in leukocyte adhesion disorder?
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receptors (CD11/CD18) on neutrophils that cause adhesion to endothelium of sites of inflammation are deficient or missing. therefore neutrophils cannot exit the circulation and remain in the circulation in increased numbers
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name catalase positive organisms
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staph aureus
pseudamonous cepacia serratia marcescens candida species aspergillus fumigatus |
