I İ

 

İmmun yetmezlik sendromları kümesi (hereditary immunodeficiencies)

Kalıtsal - AR/AD/XLR

60’ın üzerinde fenotip

Klasik immun yetmezlik bulguları

Fenotipe göre hücresel ve/veya sıvısal bağışıklık sistemi bozukulukları

Oral bulgular:

Candidiasis (tip 4, 42, 31C, 15, 26, 19, 51)

Aftöz stomatit ve herpes (tip 26, 9, 3, 37, 25, 13)

Kaposi sarkomu (tip 16)

Mine hipoplazisi (tip 10)

Neonatal diş (tip 49)

Gingivitis (tip 3)

TABLO

Bkz Wiskott-Aldrich sendromu

 

  • Levy J, Espanol-Boren T, Thomas C, et al. Clinical spectrum of X-linked hyper-IgM syndrome. Journal of Pediatrics, 131: 47-54, 1997

  • van der Burg M, Ijspeert H, Verkaik NS, et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. Journal of Clinical Investigation,119: 91-98, 2009

  • Byun M, Abhyankar A, Lelarge V, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. Journal of Experimental Medicine,207: 2307-2312, 2010

  • Okada S, Markle JG, Deenick EK, et al. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science, 349: 606-613, 2015

  • Parry DA, Holmes TD, Gamper N, et al. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.  The Journal of Allergy and Clinical Immunology, 137: 955-957, 2016