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What is the genetic mutation and mode of inheritance in May-Hegglin anomaly? Lab findings? Similar related disorders have features of what other syndrome?
MYH9 on chrom 22q12-13 (encodes non-muscle myosin HC) and autosomal dom; giant platelets, thrombocytopenia and Dohle-like leukocyte inclusions (made of endoplasmic reticulum); Alport syndrome-like nephritis and sensorineural hearing loss in Fletchner & Epstein Syndrome
A patient with a history of neutropenia and thrombocytopenia presented with recurrent infections. His bleeding time was prolonged and ATP secretion using chemiluminescence revealed markedly diminished dense granule secretion. What is the primary defect in this disease?
(Chediak-Higashi - avg ~10 inclusions/cell) Autosomal recessive disease causing defective degranulation → giant cytoplasmic fused 1° and 2° granules in grans, lymphs, and monos (abnormally fused lysozomes), and giant inclusion granules in plts
What recurrent infections do Chediak-Higashi patients experience due to WBC abnormalities? Why is bleeding time prolonged? What weird ocular thing do they have? What is the Puerto Rican dz that also has this ocular thing?
pyogenic (neuts), viral (LGL); plt abnormality of dense granules (stores ADP, ATP and serotonin in 2nd wave of aggreg); oculocutaneous albinism; Hermansky-Pudlak
How do most patients die from Chediak Higashi?
They develop a hemophagocytic syndrome-type accelerated phase within mos to yrs of birth
How can Dohle-like bodies of May Hegglin be abolished?
ribonuclease (inclusions are made up of RNA)
Is this toxic granulation or some weird anomaly? If it's an anomaly, which one is it? What is the defect? What two inherited disorders have this anomaly? What stain highlights the inclusions?
Alder-Reilly syndrome - AD inheritance, dysfunction in lysozomal enzymes to break down mucopolysaccharidoses, leading to large azurophilic granules in WBCs; Hurler's and Hunter syndrome; PAS
What is the mutation in Pelger-Huet anomaly? What types of neutrophils are seen in the homozygous form?
Lamin B receptor mutation; Stodtmeister cells (monolobated)
What is the defect for CGD? What infections are patients with CGD prone to? What infections do they almost never have? What is the mode of inheritance?
Defect in oxidative killing of ingested organisms due to NADPH oxidase deficiency; chronic suppurative infections from catalase+ bacteria & fungi with granulomas at the site of infection (ex. Staph, Enterobacter, Aspergillus); streptococcus (they are catalase negative!); X-linked or AR
What is the screening test for CGD? Affected leukocytes are also deficient in which receptors? What RBC phenotype do these patients have?
Nitroblue tetrazolium (NBT) reductase negative (<10% f+ cells) - normal phagocytic cells have oxidative fxn to convert yellow dye to blue; C3b; McLeod (no Kell antigen Kx)
What is the most likely mutation for CGD?
gp91phox (x-linked) + p22phox but can affect any phoxes
What is the most common neutrophilic defect? Mode of inheritance? How does it manifest clinically?
MPO deficiency - can't convert H2O2 to HClO- (bleach); AR; clinically asx unless diabetic (Candidal infections)
Where is MPO located in PMNs?
Primary granules - so PMNs look normal in MPO deficiency
What three conditions cause toxic granulation with Dohle bodies and cytoplasmic vacuolization?
- 1) Bacterial infection
- 2) Marrow recovery, esp post-transplant
- 3) GCSF tx
Name 5 conditions that cause neutrophil hypogranularity with hyposegmentation.
- 1) MDS
- 2) AML
- 3) Myxedema
- 4) Malaria
- 5) TB
What type of Downey T-lymphocyte is this? Is it CD4 or CD8 positive? Name four infectious causes.
Downey Type 3 - open chromatin, abundant cytoplasm, gets very basophilic right next to RBCs; CD8+ cytotoxic T-cells; EBV, HIV, Toxo, CMV
Give the two cell populations and their IHC profiles (CD2, CD3, CD8, CD16, CD56) which constitute LGLs. In LGL leukemia, what laboratory or clinical findings are helpful in the dx?
- T-cytotoxic (T-LGL): CD2+,sCD3+,CD8+,CD16+,CD56- with low and bimodal CD5
- NK LGL: CD2+,sCD3-, cCD3ε+, CD8-, with CD56+(wk) and occasionally CD16+
- *Lymphocytosis w/neutropenia and splenomegaly
What do the granules in LGL contain?
perforins to punch holes in cell wall and granzymes to induce apoptosis
Identify the processes on the left and right pictures. Name some causes of each.
- Left: Hemophagocytosis; viral (EBV, CMV), general immune activation, autoimmune (Stills dz), perforin mutation, sts T-cell lymphoma
- Right: Emperipolesis (cells passing thru, not ingested or digested); Rosai-Dorfman, normal megakaryocytes
What two histiocytic diseases rarely involve the marrow? Which histiocytic diseases DO involve the marrow?
Rosai-Dorfman and Langerhans histiocytosis; storage dz, infections, histiocytic neoplasms, hemophagocytic syndrome
What parameters distinguish hemophagocytic syndrome (HPS) from malignant histiocytosis (MH)? How are they similar?
HPS has florid hemophagocytosis without atypia or clonal rearrangements while MH has inconspicuous hemophagocytosis with atypia and clonal rearrangements; both have fever and cytopenias
Who gets syndrome of persistent polyclonal B lymphs? HLA type?
Young female smokers - bilobed small lymphs with abundant cytoplasm and polyclonal IgM gammopathy; HLA-DR7
Infection with Reider cells (small mature lymphs with clefted nuclei) and a high WBC?
What is the most specific cytokine stimulator in eosinophilia?
MCC of neutropenia?
Meds - abx, anti-thyroid (or granulocytosis), anti-convulsants, procainamide
What is Felty syndrome?
Alloimmune neutropenia in RA pts - get splenomegaly & neutropenia