WBC Disorders Flashcards
MPO def special feature
disseminated Candida
Specific granule def defect
CEBPE defect
Specific granule def diagnosis
Bilobed nuclei and lack of specific granules on peripheral smear
Pelger-Huet Anomaly defect
AD, lamin B receptor (LBR) gene, get bilobed nuclei in PMNs/eos, can also be seen in MDS
May-Hegglin Anomaly
AD, mutations in MYH9 with macrothrombocytopenia
Shwachman-Diamond Syndrome molecular defect
SDBS gene
WHIM syndrome defect
CXCR4
WHIM mnemonic
Warts, Hypogammaglobulinemia, Infections, Myelokathexis
LAD-1 - def?
Integrins, especially beta-2 integrin CD18
LAD-2 def
defect in fucosylation of macromolecules, esp selectins (includes neuro defets, Bombay RBC phenotype and craniofacial anomalies)
LAD-3 def
defect in integrin activation, bleeding diathesis
CGD mutations
gp91phox is the most common form (XL) with CYBB variants
Chediak Higashi Syndrome
AR, defect in formation/trafficking of granules, oculo-cutaneous albinism, immunodef and bleeding diathesis
Hyper IgE syndrome
STAT3, DOCK8 or TYK2