Literature DB >> 9672528

Antibody deficiency in Wolf-Hirschhorn syndrome.

J Hanley-Lopez1, L L Estabrooks, R Stiehm.   

Abstract

We identified antibody deficiencies in 9 of 13 infection-prone children with Wolf-Hirschhorn syndrome (4p-monosomy). Eight of the immunodeficient children were identified by a questionnaire sent to 190 families with an affected child. Two of the children had common variable immunodeficiency, one had IgA and IgG2 subclass deficiency, three had IgA deficiency, and three had impaired polysaccharide responsiveness. T-cell immunity was normal. The association of antibody defects with Wolf-Hirschhorn syndrome suggests a regulatory gene within the deleted chromosome region that affects the B cell system.

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Year:  1998        PMID: 9672528     DOI: 10.1016/s0022-3476(98)70194-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  12 in total

Review 1.  Genetics of IgA deficiency and common variable immunodeficiency.

Authors:  H W Schroeder
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

Review 2.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

3.  Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.

Authors:  Ildiko Hajdu; Alberto Ciccia; Susanna M Lewis; Stephen J Elledge
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-25       Impact factor: 11.205

4.  Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Authors:  Elena Campos-Sanchez; Nerea Deleyto-Seldas; Veronica Dominguez; Enrique Carrillo-de-Santa-Pau; Kiyoe Ura; Pedro P Rocha; JungHyun Kim; Arafat Aljoufi; Anna Esteve-Codina; Marc Dabad; Marta Gut; Holger Heyn; Yasufumi Kaneda; Keisuke Nimura; Jane A Skok; Maria Luisa Martinez-Frias; Cesar Cobaleda
Journal:  Cell Rep       Date:  2017-05-23       Impact factor: 9.423

Review 5.  Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

Authors:  Soma Jyonouchi; Artemio M Jongco; Jennifer Puck; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

6.  The histone methyltransferase MMSET regulates class switch recombination.

Authors:  Huadong Pei; Xiaosheng Wu; Tongzheng Liu; Kefei Yu; Diane F Jelinek; Zhenkun Lou
Journal:  J Immunol       Date:  2012-12-14       Impact factor: 5.422

7.  LETM1-dependent mitochondrial Ca2+ flux modulates cellular bioenergetics and proliferation.

Authors:  Patrick J Doonan; Harish C Chandramoorthy; Nicholas E Hoffman; Xueqian Zhang; César Cárdenas; Santhanam Shanmughapriya; Sudarsan Rajan; Sandhya Vallem; Xiongwen Chen; J Kevin Foskett; Joseph Y Cheung; Steven R Houser; Muniswamy Madesh
Journal:  FASEB J       Date:  2014-07-30       Impact factor: 5.191

8.  Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

Authors:  Ellen Schatorjé; Michiel van der Flier; Mikko Seppänen; Michael Browning; Megan Morsheimer; Stefanie Henriet; João Farela Neves; Donald Cuong Vinh; Laia Alsina; Anete Grumach; Pere Soler-Palacin; Thomas Boyce; Fatih Celmeli; Ekaterini Goudouris; Grant Hayman; Richard Herriot; Elisabeth Förster-Waldl; Markus Seidel; Annet Simons; Esther de Vries
Journal:  Orphanet J Rare Dis       Date:  2016-08-02       Impact factor: 4.123

9.  Do microdeletions lead to immune deficiency?

Authors:  Sait Karaman; Filiz Hazan; Semiha Bahçeci Erdem; Nesrin Gülez; Ferah Genel
Journal:  Cent Eur J Immunol       Date:  2020       Impact factor: 2.085

10.  A novel immunodeficiency syndrome associated with partial trisomy 19p13.

Authors:  Markus G Seidel; Celia Duerr; Stavroula Woutsas; Anette Schwerin-Nagel; Kambis Sadeghi; Jürgen Neesen; Sabine Uhrig; Elisangela Santos-Valente; Winfried F Pickl; Wolfgang Schwinger; Christian Urban; Kaan Boztug; Elisabeth Förster-Waldl
Journal:  J Med Genet       Date:  2014-01-15       Impact factor: 6.318

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