Literature DB >> 28353166

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

Soma Jyonouchi1, Artemio M Jongco2, Jennifer Puck3, Kathleen E Sullivan4.   

Abstract

Newborn screening for SCID has revealed the association of low T cells with a number of unexpected syndromes associated with low T cells, some of which were not appreciated to have this feature. This review will discuss diagnostic approaches and the features of some of the syndromes likely to be encountered following newborn screening for immune deficiencies.

Entities:  

Keywords:  Immunology; Low T cells; NBS; Newborn screen

Mesh：

Year:  2017        PMID： 28353166     DOI： 10.1007/s10875-017-0388-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  130 in total

1.  Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

Authors:  James W Verbsky; Mei W Baker; William J Grossman; Mary Hintermeyer; Trivikram Dasu; Benedetta Bonacci; Sreelatha Reddy; David Margolis; James Casper; Miranda Gries; Ken Desantes; Gary L Hoffman; Charles D Brokopp; Christine M Seroogy; John M Routes
Journal:  J Clin Immunol       Date:  2011-11-10       Impact factor: 8.317

2.  Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers.

Authors:  A Cossarizza; D Monti; G Montagnani; C Ortolani; M Masi; M Zannotti; C Franceschi
Journal:  Am J Med Genet Suppl       Date:  1990

3.  Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  K E Sullivan; D McDonald-McGinn; D A Driscoll; B S Emanuel; E H Zackai; A F Jawad
Journal:  Clin Diagn Lab Immunol       Date:  1999-11

4.  Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome.

Authors:  A R Gennery; D Barge; J J O'Sullivan; T J Flood; M Abinun; A J Cant
Journal:  Arch Dis Child       Date:  2002-06       Impact factor: 3.791

5.  Antibody response to pneumococcal capsular polysaccharide vaccine in Down syndrome patients.

Authors:  B T Costa-Carvalho; R M A Martinez; A T N Dias; C A Kubo; P Barros-Nunes; L Leiva; D Solé; M M S Carneiro-Sampaio; C K Naspitz; R U Sorensen
Journal:  Braz J Med Biol Res       Date:  2006-12       Impact factor: 2.590

6.  Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.

Authors:  M Louise Markert; Marilyn J Alexieff; Jie Li; Marcella Sarzotti; Daniel A Ozaki; Blythe H Devlin; Gregory D Sempowski; Maria E Rhein; Paul Szabolcs; Laura P Hale; Rebecca H Buckley; Katharine E Coyne; Henry E Rice; Samuel M Mahaffey; Michael A Skinner
Journal:  J Allergy Clin Immunol       Date:  2004-04       Impact factor: 10.793

Review 7.  Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

Authors:  Martin Digweed; Karl Sperling
Journal:  DNA Repair (Amst)       Date:  2004 Aug-Sep

8.  Terminal deletion of 11q with significant late-onset combined immune deficiency.

Authors:  Mikko Seppänen; Hannele Koillinen; Satu Mustjoki; Mölkänen Tomi; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2014-01       Impact factor: 8.317

9.  The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study.

Authors:  Maria Angelica Selim; Mary L Markert; James L Burchette; Christopher M Herman; John W Turner
Journal:  J Cutan Pathol       Date:  2008-04       Impact factor: 1.587

10.  Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.

Authors:  Antonia Kwan; Joseph A Church; Morton J Cowan; Rajni Agarwal; Neena Kapoor; Donald B Kohn; David B Lewis; Sean A McGhee; Theodore B Moore; E Richard Stiehm; Matthew Porteus; Constantino P Aznar; Robert Currier; Fred Lorey; Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2013-07       Impact factor: 10.793
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  7 in total

1.  SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.

Authors:  Paulina Tran; Mahnaz Jamee; Zahra Pournasiri; Zahra Chavoshzadeh; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2022-09-02       Impact factor: 8.542

2.  MHC II deficient infant identified by newborn screening program for SCID.

Authors:  Nufar Marcus; Tali Stauber; Atar Lev; Amos J Simon; Jerry Stein; Arnon Broides; Ido Somekh; Shlomo Almashanu; Raz Somech
Journal:  Immunol Res       Date:  2018-08       Impact factor: 2.829

Review 3.  Newborn Screening for Severe Combined Immunodeficiency.

Authors:  John Routes; James Verbsky
Journal:  Curr Allergy Asthma Rep       Date:  2018-05-10       Impact factor: 4.806

4.  IN TIME: THE VALUE AND GLOBAL IMPLICATIONSOF NEWBORN SCREENING FORSEVERE COMBINED IMMUNODEFICIENCY.

Authors:  Cristina Meehan; Carmem Bonfim; Joseph F Dasso; Beatriz Tavares Costa-Carvalho; Antonio Condino-Neto; Jolan Walter
Journal:  Rev Paul Pediatr       Date:  2018 Oct-Dec

Review 5.  Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.

Authors:  Jovanka R King; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2017-11-08       Impact factor: 8.317

6.  High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

Authors:  Hamoud Al-Mousa; Ghadah Al-Dakheel; Amal Jabr; Fahd Elbadaoui; Mohamed Abouelhoda; Mansoor Baig; Dorota Monies; Brian Meyer; Abbas Hawwari; Majed Dasouki
Journal:  Front Immunol       Date:  2018-04-16       Impact factor: 8.786

7.  Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Authors:  Andrea Martin-Nalda; Anna M Cueto-González; Ana Argudo-Ramírez; Jose L Marin-Soria; Monica Martinez-Gallo; Roger Colobran; Albert Plaja; Neus Castells; Jacques Riviere; Eduardo F Tizzano; Pere Soler-Palacin
Journal:  Mol Genet Genomic Med       Date:  2019-10-30       Impact factor: 2.183
  7 in total

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