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

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2017 Mar 30

PMID 28353166

Citations 9

Authors

Soma Jyonouchi

Artemio M Jongco

Jennifer Puck

Kathleen E Sullivan

Affiliations

Soon will be listed here.

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.

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Newborn screening for SCID: the very first prospective pilot study from Türkiye.

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References

Sullivan K, McDonald-McGinn D, Driscoll D, Emanuel B, Zackai E, Jawad A . Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol. 1999; 6(6):906-11. PMC: 95796. DOI: 10.1128/CDLI.6.6.906-911.1999. View

Verbsky J, Baker M, Grossman W, Hintermeyer M, Dasu T, Bonacci B . Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol. 2011; 32(1):82-8. DOI: 10.1007/s10875-011-9609-4. View

Costa-Carvalho B, Martinez R, Dias A, Kubo C, Barros-Nunes P, Leiva L . Antibody response to pneumococcal capsular polysaccharide vaccine in Down syndrome patients. Braz J Med Biol Res. 2006; 39(12):1587-92. DOI: 10.1590/s0100-879x2006001200010. View

Markert M, Alexieff M, Li J, Sarzotti M, Ozaki D, Devlin B . Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004; 113(4):734-41. DOI: 10.1016/j.jaci.2004.01.766. View

Cossarizza A, Monti D, Montagnani G, Ortolani C, Masi M, Zannotti M . Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers. Am J Med Genet Suppl. 1990; 7:213-8. DOI: 10.1002/ajmg.1320370743. View

Kwan A, Church J, Cowan M, Agarwal R, Kapoor N, Kohn D . Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013; 132(1):140-50. PMC: 3759317. DOI: 10.1016/j.jaci.2013.04.024. View

Selim M, Markert M, Burchette J, Herman C, Turner J . The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study. J Cutan Pathol. 2008; 35(4):380-5. DOI: 10.1111/j.1600-0560.2007.00816.x. View

Seppanen M, Koillinen H, Mustjoki S, Tomi M, Sullivan K . Terminal deletion of 11q with significant late-onset combined immune deficiency. J Clin Immunol. 2013; 34(1):114-8. DOI: 10.1007/s10875-013-9966-2. View

Gennery A, Barge D, OSullivan J, Flood T, Abinun M, Cant A . Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002; 86(6):422-5. PMC: 1763000. DOI: 10.1136/adc.86.6.422. View

10.

Digweed M, Sperling K . Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst). 2004; 3(8-9):1207-17. DOI: 10.1016/j.dnarep.2004.03.004. View

11.

Estabrooks L, Stiehm R . Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr. 1998; 133(1):141-3. DOI: 10.1016/s0022-3476(98)70194-5. View

12.

de Hingh Y, van der Vossen P, Gemen E, Mulder A, Hop W, Brus F . Intrinsic abnormalities of lymphocyte counts in children with down syndrome. J Pediatr. 2005; 147(6):744-7. DOI: 10.1016/j.jpeds.2005.07.022. View

13.

Jawad A, McDonald-McGinn D, Zackai E, Sullivan K . Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001; 139(5):715-23. DOI: 10.1067/mpd.2001.118534. View

14.

Markert M, Sarzotti M, Ozaki D, Sempowski G, Rhein M, Hale L . Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003; 102(3):1121-30. DOI: 10.1182/blood-2002-08-2545. View

15.

Sebastio G, Sperandeo M, Andria G . Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011; 157C(1):54-62. DOI: 10.1002/ajmg.c.30287. View

16.

Glousker G, Touzot F, Revy P, Tzfati Y, Savage S . Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol. 2015; 170(4):457-71. PMC: 4526362. DOI: 10.1111/bjh.13442. View

17.

Dentici M, Di Pede A, Lepri F, Gnazzo M, Lombardi M, Auriti C . Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2014; 100(2):158-64. DOI: 10.1136/archdischild-2013-305858. View

18.

Bartsch O, TYMPNER K, Schwinger E, GORLIN R . Mulvihill-Smith syndrome: case report and review. J Med Genet. 1994; 31(9):707-11. PMC: 1050081. DOI: 10.1136/jmg.31.9.707. View

19.

Carpinelli M, Kruse E, Arhatari B, Debrincat M, Ogier J, Bories J . Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. Am J Pathol. 2015; 185(7):1867-76. DOI: 10.1016/j.ajpath.2015.03.026. View

20.

Kusters M, Verstegen R, Gemen E, de Vries E . Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009; 156(2):189-93. PMC: 2759463. DOI: 10.1111/j.1365-2249.2009.03890.x. View