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603 results
  1. NR0B1-Related Adrenal Hypoplasia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1431
    ... by biallelic pathogenic variants in AAAS (OMIM ... and neurologic symptoms can also occur. Sometimes adrenal insufficiency can precede ...
  2. Familial glucocorticoid deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../familial-glucocorticoid-deficiency
    ... but they typically do not show signs and symptoms of the condition. Other Names ... and adrenal insufficiency Genetic Testing Registry: Glucocorticoid ...
  3. DOCK8 immunodeficiency syndrome 
    https://medlineplus.gov/.../dock8-immunodeficiency-syndrome
    ... ED, Orange JS. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar;131(3): ...
  4. XIAP gene 
    https://medlineplus.gov/genetics/gene/xiap
    ... 1023/a:1011379307472. Citation on PubMed Latour S. Natural killer T ... AH. XIAP deficiency: a unique primary immunodeficiency best classified as X- ...
  5. X-linked lymphoproliferative disease 
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease
    ... 008-8048-7. Citation on PubMed Latour S. Natural killer T cells and ... AH. XIAP deficiency: a unique primary immunodeficiency best classified as X- ...
  6. X-linked severe combined immunodeficiency 
    https://medlineplus.gov/...x-linked-severe-combined-immunodeficiency
    X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X- ...
  7. JAK3-deficient severe combined immunodeficiency 
    https://medlineplus.gov/...eficient-severe-combined-immunodeficiency
    ... white blood cells (lymphocytes) called T cells and natural killer cells. In addition, the JAK3 protein is important for ... called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi, and help regulate ...
  8. TYROBP gene 
    https://medlineplus.gov/genetics/gene/tyrobp
    ... system, where they activate certain cells (such as natural killer cells and dendritic cells) that trigger an inflammatory response ...
  9. PLCG2-associated antibody deficiency and immune dysregulation 
    https://medlineplus.gov/...ibody-deficiency-and-immune-dysregulation
    ... destruction. The number of immune system cells called natural killer (NK) cells may also be reduced.Autoimmune disorders, which occur ... C-gamma2 in the human hereditary disease PLAID. Cell Signal. 2016 Sep;28(9):1237-1251. doi: 10.1016/j.cellsig.2016.05.010. Epub 2016 May 17. Citation on PubMed
  10. Childhood Myelodysplastic Neoplasms Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK602705
    ... AML in conjunction with monocytopenia, B cell and natural killer cell deficiency, pulmonary alveolar proteinosis, and susceptibility to opportunistic infections.[ ...
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