Results 1 - 3 of 3 for Severe congenital neutropenia autosomal dominant
  1. ... Health Professionals What glossary definitions help with understanding severe congenital neutropenia? autosomal ; autosomal dominant ; autosomal recessive ; bone density ; bone marrow ; cancer ; cell ; ...
  2. Rare Diseases and Related Terms From the National Institutes of Health (Office of Rare Diseases)  
    ... responsive type * Autosomal dominant severe congenital neutropenia - See Severe congenital neutropenia autosomal dominant * Autosomal dominant SLC4A1-associated distal renal tubular acidosis - ...
  3. Hyper-Immunoglobulin E Syndrome (HIES) or Job's Syndrome From the National Institutes of Health (National Institute of Allergy and Infectious Diseases)  
    ... overlapping but distinct symptoms. Classic HIES is called autosomal dominant HIES (AD-HIES) and results from mutations in a gene that encodes a signaling molecule called STAT3. This molecule is involved ... referred to as autosomal recessive HIES (AR-HIES). In 2009 however, NIAID ...
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