|1.||Notarangelo, Luigi D: 4 articles (07/2015 - 07/2009)|
|2.||Al-Herz, Waleed: 2 articles (07/2015 - 04/2013)|
|3.||Candotti, Fabio: 2 articles (07/2015 - 01/2009)|
|4.||Fischer, A: 2 articles (01/2015 - 05/2002)|
|5.||Pai, Sung-Yun: 2 articles (04/2014 - 04/2013)|
|6.||Tanimura, Ayako: 2 articles (01/2014 - 01/2014)|
|7.||Horiguchi, Taigo: 2 articles (01/2014 - 01/2014)|
|8.||Noma, Takafumi: 2 articles (01/2014 - 01/2014)|
|9.||Miyoshi, Keiko: 2 articles (01/2014 - 01/2014)|
|10.||Demerens-de Chappedelaine, Corinne: 2 articles (07/2011 - 01/2009)|
|1.||Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
07/27/2015 - "The AK2 isoenzyme is expressed in the mitochondrial intermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunodeficiency (SCID) in humans. "
04/01/2014 - "Of the 285 eligible patients, 84% were classified as having typical SCID; 13% were classified as having leaky SCID, Omenn syndrome, or reticular dysgenesis; and 3% had a history of enzyme replacement or gene therapy. "
04/01/2013 - "First reported case of Omenn syndrome in a patient with reticular dysgenesis."
11/01/2010 - "Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. "
03/01/2010 - "Reticular dysgenesis (RD) is a rare form of severe combined immunodeficiency (SCID). "
|2.||Deafness (Deaf Mutism)
09/01/1999 - "Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness."
01/01/2014 - "In addition, two other studies reported that AK2 is a responsible gene for reticular dysgenesis (RD), a human disease that is characterized by severe combined immunodeficiency and deafness. "
01/01/2014 - "Two other groups found that human AK2 mutations cause reticular dysgenesis, a form of severe combined immunodeficiency (SCID) that is associated with severe hematopoietic defects and sensorineural deafness. "
|3.||Ciliary Motility Disorders (Ciliary Dyskinesia)
04/01/1996 - "A response to G-CSF in a neutropenic child with SCID can be clinically beneficial and might help to distinguish between G-CSF unresponsive reticular dysgenesis and G-CSF responsive SCID associated neutropenia."
04/01/1996 - "The neutropenia in this case may thus be classified as SCID associated neutropenia, as opposed to reticular dysgenesis, in which the neutropenia is G-CSF refractory and is most probably caused by a genetic stem cell defect. "
01/01/2015 - "Reticular dysgenesis is a human severe combined immunodeficiency that is primarily characterized by profound neutropenia and lymphopenia. "
09/01/1999 - "Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. "
01/01/1998 - "Recent advances have been made in the pathogenesis and treatment of several types of neonatal neutropenia, including reticular dysgenesis, Schwachman-Diamond syndrome, Kostmann syndrome, neutropenia in infants of hypertensive women, and "idiopathic neutropenia." This review of nonimmune neutropenias highlights these developments."
|1.||Protein Isoforms (Isoforms)
|3.||T cell immunodeficiency primary
|5.||Granulocyte Colony-Stimulating Factor (G-CSF)
|6.||Severe congenital neutropenia
|7.||Bruton type agammaglobulinemia
|9.||Severe combined immunodeficiency due to adenosine deaminase deficiency
|2.||Bone Marrow Transplantation (Transplantation, Bone Marrow)