Inherited CD59 deficiency, where neurology and genetics intertwine

References

1. 1.↵
   1. Nevo Y,
   2. Ben-Zeev B,
   3. Tabib A,
   4. Straussberg R,
   5. Anikster Y,
   6. Shorer Z, et al.

   CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. Blood 2013; 121: 129–135.

   OpenUrlAbstract/FREE Full Text
2. 2.↵
   1. Mevorach D.

   Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities. Mol Immunol 2015; 67: 51–55.

   OpenUrlCrossRefPubMed
3. 3.↵
   1. Sugita Y,
   2. Masuho Y.

   CD59: its role in complement regulation and potential for therapeutic use. Immunotechnology 1995; 1: 157–168.

   OpenUrlCrossRefPubMed
4. 4.↵
   1. Vedeler C,
   2. Ulvestad E,
   3. Bjørge L,
   4. Conti G,
   5. Williams K,
   6. Mørk S, et al.

   The expression of CD59 in normal human nervous tissue. Immunology 1994; 82: 542–547.

   OpenUrlPubMedWeb of Science
5. 5.↵
   1. Ben-Zeev B,
   2. Tabib A,
   3. Nissenkorn A,
   4. Garti BZ,
   5. Gomori JM,
   6. Nass D, et al.

   Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency. Eur J Paediatr Neurol 2015; 19: 688–693.

   OpenUrl
6. 6.↵
   1. Javadi Parvaneh V,
   2. Ghasemi L,
   3. Rahmani K,
   4. Shiari R,
   5. Mesdaghi M,
   6. Chavoshzadeh Z, et al.

   Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome. Auto Immun Highlights 2020; 11: 9.
7. 7.↵
   1. Risitano AM,
   2. Perna F,
   3. Selleri C.

   Achievements and limitations of complement inhibition by eculizumab in paroxysmal nocturnal hemoglobinuria: the role of complement component 3. Mini Rev Med Chem 2011; 11: 528–535.

   OpenUrlCrossRefPubMed
8. 8.↵
   1. Weinstock C.

   Association of Blood Group Antigen CD59 with Disease. Transfus Med Hemother 2022; 49: 13–24.

   OpenUrl
9. 9.↵
   ACMG Guidelines- American College of Medical Genetics https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf [Last accessed 10th, March, 2022]
10. 10.↵
    1. Gervasi F,
    2. D’Amelio L,
    3. Trizzino A,
    4. Ferraro F,
    5. Russo D,
    6. Santangelo G, et al.

    Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria. Hematol Rep 2017; 9: 7012.

    OpenUrl
11. 11.↵
    1. Solmaz I,
    2. Aytekin ES,
    3. Çağdaş D,
    4. Tan C,
    5. Tezcan I,
    6. Gocmen R, et al.

    Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency. Neuropediatrics 2020; 51: 206–210.

    OpenUrlCrossRef
12. 12.↵
    1. Haliloglu G,
    2. Maluenda J,
    3. Sayinbatur B,
    4. Aumont C,
    5. Temucin C,
    6. Tavil B, et al.

    Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. Neurology 2015; 84: 1220–1224.

    OpenUrlCrossRef