Literature DB >> 12755799

Autoimmune cytopenias in the 22q11.2 deletion syndrome.

J K Davies1, P Telfer, J D Cavenagh, N Foot, M Neat.   

Abstract

We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis.

Entities:  

Mesh：

Year:  2003        PMID： 12755799     DOI： 10.1046/j.1365-2257.2003.00508.x

Source DB:  PubMed          Journal:  Clin Lab Haematol        ISSN： 0141-9854


  12 in total

1.  Immunologic reconstitution in 22q deletion (DiGeorge) syndrome.

Authors:  Sean A McGhee; Maria Garcia Lloret; E Richard Stiehm
Journal:  Immunol Res       Date:  2009       Impact factor: 2.829

2.  New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children.

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Journal:  Haematologica       Date:  2011-01-12       Impact factor: 9.941

3.  Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.

Authors:  Štefan Blazina; Gašper Markelj; Anja Koren Jeverica; Nataša Toplak; Nevenka Bratanič; Janez Jazbec; Peter Kopač; Maruša Debeljak; Alojz Ihan; Tadej Avčin
Journal:  J Clin Immunol       Date:  2016-08-31       Impact factor: 8.317

Review 4.  Thymus transplantation.

Authors:  M Louise Markert; Blythe H Devlin; Elizabeth A McCarthy
Journal:  Clin Immunol       Date:  2010-03-16       Impact factor: 3.969

Review 5.  Autoimmunity in immunodeficiency.

Authors:  Krista Todoric; Jessica B Koontz; Daniel Mattox; Teresa K Tarrant
Journal:  Curr Allergy Asthma Rep       Date:  2013-08       Impact factor: 4.806

Review 6.  Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Authors:  Blaine Crowley; Melanie Ruffner; Donna M McDonald McGinn; Kathleen E Sullivan
Journal:  Am J Med Genet A       Date:  2018-01-17       Impact factor: 2.802

7.  A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

Authors:  Abbas F Jawad; Eline Luning Prak; Jean Boyer; Donna M McDonald-McGinn; Elaine Zackai; Kenyetta McDonald; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2011-08-24       Impact factor: 8.317

8.  Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.

Authors:  Gloria Colarusso; Eleonora Gambineri; Elisabetta Lapi; Tommaso Casini; Fabio Tucci; Francesca Lippi; Chiara Azzari
Journal:  Pediatr Rep       Date:  2010-09-06

Review 9.  From murine to human nude/SCID: the thymus, T-cell development and the missing link.

Authors:  Rosa Romano; Loredana Palamaro; Anna Fusco; Leucio Iannace; Stefano Maio; Ilaria Vigliano; Giuliana Giardino; Claudio Pignata
Journal:  Clin Dev Immunol       Date:  2012-03-05

Review 10.  Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Authors:  E Graham Davies
Journal:  Front Immunol       Date:  2013-10-31       Impact factor: 7.561
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