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Journal of Clinical Immunology
Erschienen in: Journal of Clinical Immunology 4/2017

28.03.2017 | Original Article

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

verfasst von: Soma Jyonouchi, Artemio M. Jongco, Jennifer Puck, Kathleen E. Sullivan

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2017

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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.
Literatur
1.
Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, et al. The 2015 IUIS phenotypic classification for primary Immunodeficiencies. J Clin Immunol. 2015;35(8):727–38.PubMedPubMedCentralCrossRef
2.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729–38.PubMedPubMedCentralCrossRef
3.
Borte S, von Döbeln U, Fasth A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119(11):2552–5.PubMedCrossRef
4.
Chiarini M, Zanotti C, Serana F, Sottini A, Bertoli D, Caimi L, et al. T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges. J Public Health Res. 2013;2(1):9–16.PubMedPubMedCentralCrossRef
5.
6.
Adeli MM, Buckley RH. Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics. 2010;126(2):e465–9.PubMedCrossRef
7.
Comeau AM, Hale JE, Pai SY, Bonilla FA, Notarangelo LD, Pasternack MS, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis. 2010;33(Suppl 2):S273–81.PubMedCrossRef
8.
Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab. 2011;104(3):383–9.PubMedPubMedCentralCrossRef
9.
Chan A, Scalchunes C, Boyle M, Puck JM. Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol. 2011;138(1):3–8.PubMedCrossRef
10.
Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2011;117(11):3243–6.PubMedCrossRef
11.
Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.PubMedCrossRef
12.
Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602–10.PubMedCrossRef
13.
Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014;371(5):434–46.PubMedPubMedCentralCrossRef
14.
Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129(3):607–16.PubMedPubMedCentralCrossRef
15.
Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391–8.PubMedCrossRef
16.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency 2015. J Clin Immunol. 2015;35(8):696–726.PubMedPubMedCentralCrossRef
17.
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. 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.PubMedPubMedCentralCrossRef
18.
Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, et al. Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. Pediatr Transplant. 2009;13(2):244–50.PubMedCrossRef
19.
Punwani D, Zhang Y, Yu J, Cowan M, Rana S, Kwan A, et al. Multisystem anomalies in severe combined immune deficiency with mutant BCL11B. N Engl J Med. 2016;375(22):2165–76.PubMedCrossRef
20.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, et al. Newborn screening for SCID in New York state: experience from the first two years. J Clin Immunol. 2014;34(3):289–303.PubMedPubMedCentralCrossRef
21.
Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol. 2012;32(1):82–8.PubMedCrossRef
22.
Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol. 2011;128(6):1375–6.PubMedCrossRef
23.
24.
25.
Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443–52.PubMedCrossRef
26.
Lindsay EA, Botta A, Jurecic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM, et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature. 1999;401(6751):379–83.PubMed
27.
Markert ML. Treatment of infants with complete DiGeorge anomaly. J Allergy Clin Immunol. 2008;121(4):1063. author reply -4 PubMedCrossRef
28.
Markert ML, Hummell DS, Rosenblatt HM, Schiff SE, Harville TO, Williams LW, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr. 1998;132(1):15–21.PubMedCrossRef
29.
Markert ML, Alexieff MJ, Li J, Sarzotti M, Ozaki DA, Devlin BH, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. Journal of Allergy & Clinical Immunology. 2004;113(4):734–41.CrossRef
30.
Selim MA, Markert ML, Burchette JL, Herman CM, Turner JW. The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study. J Cutan Pathol. 2008;35(4):380–5.PubMedCrossRef
31.
Markert ML, Boeck A, Hale LP, Kloster AL, McLaughlin TM, Batchvarova MN, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341(16):1180–9.PubMedCrossRef
32.
Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. 1987;111(1):40–4.PubMedCrossRef
33.
Land MH, Garcia-Lloret MI, Borzy MS, Rao PN, Aziz N, McGhee SA, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol. 2007;120(4):908–15.PubMedCrossRef
34.
Janda A, Sedlacek P, Mejstrikova E, Zdrahalova K, Hrusak O, Kalina T, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant. 2007;11(4):441–7.PubMedCrossRef
35.
Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007;109(10):4539–47.PubMedPubMedCentralCrossRef
36.
Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. 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.PubMedPubMedCentral
37.
Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103(3):1020–5.PubMedCrossRef
38.
39.
Jawad AF, Prak EL, Boyer J, McDonald-McGinn DM, Zackai E, McDonald K, et al. 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). J Clin Immunol. 2011;31(6):927–35.PubMedCrossRef
40.
Gennery AR, Barge D, O’Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86(6):422–5.PubMedPubMedCentralCrossRef
41.
McLean-Tooke A, Barge D, Spickett GP, Gennery AR. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol. 2008;122(2):362–7.PubMedCrossRef
42.
Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010;136(3):409–18.PubMedPubMedCentralCrossRef
43.
Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139(5):715–23.PubMedCrossRef
44.
Tison BE, Nicholas SK, Abramson SL, Hanson IC, Paul ME, Seeborg FO, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011;128(5):1115–7 e1-3.PubMedCrossRef
45.
Klocperk A, Grecova J, Sismova K, Kayserova J, Fronkova E, Sediva A. Helios expression in T-regulatory cells in patients with di George syndrome. J Clin Immunol. 2014;34(7):864–70.PubMedCrossRef
46.
Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003;112(4):e325.PubMedCrossRef
47.
Moylett EH, Wasan AN, Noroski LM, Shearer WT. Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. Clin Immunol. 2004;this issue.
48.
Hofstetter AM, Jakob K, Klein NP, Dekker CL, Edwards KM, Halsey NA, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133(4):e946–54.PubMedCrossRef
49.
Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, et al. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care. Eur J Med Genet. 2014;57(6):306–11.PubMedCrossRef
50.
Repetto GM, Guzman ML, Puga A, Calderon JF, Astete CP, Aracena M, et al. Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients. Clin Genet. 2009;76(5):465–70.PubMedCrossRef
51.
Brown SC, Henderson BD, Buys DA, Theron M, Long MA, Smit F. Cardiac abnormalities and facial anthropometric measurements in children from the free state and northern cape provinces of South Africa with chromosome 22q11.2 microdeletion. Cardiovasc J Afr. 2010;21(1):32–6.PubMedPubMedCentral
52.
Papangeli I, Scambler P. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. Wiley Interdiscip Rev Dev Biol. 2013;2(3):393–403.PubMedCrossRef
53.
Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010;463(7283):958–62.PubMedPubMedCentralCrossRef
54.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008;153(1):75–80.PubMedPubMedCentralCrossRef
55.
Markert ML, Sarzotti M, Ozaki DA, Sempowski GD, Rhein ME, Hale LP, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003;102(3):1121–30.PubMedCrossRef
56.
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: a review. J Paediatr Child Health. 2014;50(7):504–11.PubMedCrossRef
57.
58.
Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009;156(2):189–93.PubMedPubMedCentralCrossRef
59.
Levin S, Schlesinger M, Handzel Z, Hahn T, Altman Y, Czernobilsky B, et al. Thymic deficiency in Down’s syndrome. Pediatrics. 1979;63(1):80–7.PubMed
60.
Larocca LM, Lauriola L, Ranelletti FO, Piantelli M, Maggiano N, Ricci R, et al. Morphological and immunohistochemical study of Down syndrome thymus. Am J Med Genet Suppl. 1990;7:225–30.PubMed
61.
Lima FA, Moreira-Filho CA, Ramos PL, Brentani H, Lima Lde A, Arrais M, et al. Decreased AIRE expression and global thymic hypofunction in Down syndrome. J Immunol. 2011;187(6):3422–30.PubMedCrossRef
62.
Verstegen RH, Borte S, Bok LA, van Zwieten PH, von Dobeln U, Hammarstrom L, et al. Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. J Allergy Clin Immunol. 2014;133(4):1208–11.PubMedCrossRef
63.
Costa-Carvalho BT, Martinez RM, Dias AT, Kubo CA, Barros-Nunes P, Leiva L, et al. Antibody response to pneumococcal capsular polysaccharide vaccine in Down syndrome patients. Braz J Med Biol Res. 2006;39(12):1587–92.PubMedCrossRef
64.
Gimenez-Barcons M, Casteras A, Armengol Mdel P, Porta E, Correa PA, Marin A, et al. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol. 2014;193(8):3872–9.PubMedCrossRef
65.
Pellegrini FP, Marinoni M, Frangione V, Tedeschi A, Gandini V, Ciglia F, et al. Down syndrome, autoimmunity and T regulatory cells. Clin Exp Immunol. 2012;169(3):238–43.PubMedPubMedCentralCrossRef
66.
67.
Van Dyke DC, Allen M. Clinical management considerations in long-term survivors with trisomy 18. Pediatrics. 1990;85(5):753–9.PubMed
68.
Makrydimas G, Plachouras N, Thilaganathan B, Nicolaides KH. Abnormal immunological development in fetuses with trisomy 18. Prenat Diagn. 1994;14(4):239–41.PubMedCrossRef
69.
de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, et al. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011;128(1):139–46.PubMedPubMedCentralCrossRef
70.
Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, et al. Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. J Allergy Clin Immunol. 2008;122(6):1178–84.PubMedCrossRef
71.
Morimoto M, Baradaran-Heravi A, Lucke T, Boerkoel CF. Schimke immunoosseous dysplasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA); 1993.
72.
Boerkoel CF, O’Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr. 2000;159(1–2):1–7.PubMedCrossRef
73.
Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet. 1999;36(10):786–9.PubMedPubMedCentralCrossRef
74.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2015;100(2):158–64.PubMedCrossRef
75.
Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A. 2005;135(3):278–81.PubMedCrossRef
76.
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol. 2002;11(2):95–102.PubMedCrossRef
77.
78.
Seppanen M, Koillinen H, Mustjoki S, Tomi M, Sullivan KE. Terminal deletion of 11q with significant late-onset combined immune deficiency. J Clin Immunol. 2014;34(1):114–8.PubMedCrossRef
79.
Sirvent N, Monpoux F, Pedeutour F, Fraye M, Philip P, Ticchioni M, et al. Jacobsen’s syndrome, thrombopenia and humoral immunodeficiency. Arch Pediatr. 1998;5(12):1338–40.PubMedCrossRef
80.
Carpinelli MR, Kruse EA, Arhatari BD, Debrincat MA, Ogier JM, Bories JC, et al. Mice Haploinsufficient for Ets1 and Fli1 display middle ear abnormalities and model aspects of Jacobsen syndrome. Am J Pathol. 2015;185(7):1867–76.PubMedCrossRef
81.
Wang D, John SA, Clements JL, Percy DH, Barton KP, Garrett-Sinha LA. Ets-1 deficiency leads to altered B cell differentiation, hyperresponsiveness to TLR9 and autoimmune disease. Int Immunol. 2005;17(9):1179–91.PubMedCrossRef
82.
Baskaran R, Wood LD, Whitaker LL, Canman CE, Morgan SE, Xu Y, et al. Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. Nature. 1997;387(6632):516–9.PubMedCrossRef
83.
Khanna KK, Keating KE, Kozlov S, Scott S, Gatei M, Hobson K, et al. ATM associates with and phosphorylates p53: mapping the region of interaction. Nat Genet. 1998;20(4):398–400.PubMedCrossRef
84.
Wu X, Ranganathan V, Weisman DS, Heine WF, Ciccone DN, O’Neill TB, et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature. 2000;405(6785):477–82.PubMedCrossRef
85.
Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9.PubMedCrossRef
86.
Chaudhuri J, Alt FW. Class-switch recombination: interplay of transcription, DNA deamination and DNA repair. Nat Rev Immunol. 2004;4(7):541–52.PubMedCrossRef
87.
Chopra C, Davies G, Taylor M, Anderson M, Bainbridge S, Tighe P, et al. Immune deficiency in ataxia-telangiectasia: a longitudinal study of 44 patients. Clin Exp Immunol. 2014;176(2):275–82.PubMedPubMedCentralCrossRef
88.
Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003;10(3):173–82.PubMedCrossRef
89.
Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d’Enghien C, Brousse N, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol. 2015;33(2):202–8.PubMedCrossRef
90.
91.
Piatosa B, van der Burg M, Siewiera K, Pac M, van Dongen JJ, Langerak AW, et al. The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. Cytometry A. 2012;81(10):835–42.PubMedCrossRef
92.
93.
Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, et al. Eleven Polish patients with microcephaly, immunodeficiency, and chromsomal instability. Am J Med Genet. 1995;57:462–71.PubMedCrossRef
94.
Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, et al. Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). J Clin Immunol. 2015;35(2):227–33.PubMedPubMedCentralCrossRef
95.
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.CrossRef
96.
van Zelm MC, Szczepanski T, van der Burg M, van Dongen JJ. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med. 2007;204(3):645–55.PubMedPubMedCentralCrossRef
97.
van Zelm MC, van der Burg M, Langerak AW, van Dongen JJ. PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol. 2011;2:12.PubMedPubMedCentral
98.
Sottini A, Ghidini C, Zanotti C, Chiarini M, Caimi L, Lanfranchi A, et al. Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Clin Immunol. 2010;136(2):217–27.PubMedCrossRef
99.
Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, et al. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol. 2013;131(5):1437–40.e5.PubMedCrossRef
100.
Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, et al. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128(1):223–5.e2.PubMedCrossRef
101.
Borte S, Wang N, Oskarsdóttir S, von Döbeln U, Hammarström L. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci. 2011;1246:118–30.PubMedCrossRef
102.
Olbrich P, de Felipe B, Delgado-Pecellin C, Rodero R, Rojas P, Aguayo J, et al. A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia. An Pediatr (Barc). 2014;81(5):310–7.CrossRef
103.
Somech R, Lev A, Simon AJ, Korn D, Garty BZ, Amariglio N, et al. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. Isr Med Assoc J. 2013;15(8):404–9.PubMed
104.
Fleisher TA, White RM, Broder S, Nissley SP, Blaese RM, Mulvihill JJ, et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med. 1980;302(26):1429–34.PubMedCrossRef
105.
Church JA, Koch R, Shaw KN, Nye CA, Donnell GN. Immune functions in methylmalonicaciduria. J Inherit Metab Dis. 1984;7(1):12–4.PubMedCrossRef
106.
Lockitch G, Singh VK, Puterman ML, Godolphin WJ, Sheps S, Tingle AJ, et al. Age-related changes in humoral and cell-mediated immunity in Down syndrome children living at home. Pediatr Res. 1987;22(5):536–40.PubMedCrossRef
107.
Nagata M, Suzuki M, Kawamura G, Kono S, Koda N, Yamaguchi S, et al. Immunological abnormalities in a patient with lysinuric protein intolerance. Eur J Pediatr. 1987;146(4):427–8.PubMedCrossRef
108.
Wong SN, Low LC, Lau YL, Nicholls J, Chan MY. Immunodeficiency in methylmalonic acidaemia. J Paediatr Child Health. 1992;28(2):180–3.PubMedCrossRef
109.
Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 1994;346(2–3):165–70.PubMed
110.
Cossarizza A, Monti D, Montagnani G, Ortolani C, Masi M, Zannotti M, et al. 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.PubMed
111.
Ugazio AG, Maccario R, Notarangelo LD, Burgio GR. Immunology of Down syndrome: a review. Am J Med Genet Suppl. 1990;7:204–12.PubMed
112.
113.
Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, et al. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Am J Med Genet. 1993;45(5):597–600.PubMedCrossRef
114.
Raby RB, Ward JC, Herrod HG. Propionic acidaemia and immunodeficiency. J Inherit Metab Dis. 1994;17(2):250–1.PubMedCrossRef
115.
Stewart DM, Notarangelo LD, Kurman CC, Staudt LM, Nelson DL. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J Immunol. 1995;155(5):2770–4.PubMed
116.
Yoshida Y, Machigashira K, Suehara M, Arimura H, Moritoyo T, Nagamatsu K, et al. Immunological abnormality in patients with lysinuric protein intolerance. J Neurol Sci. 1995;134(1–2):178–82.PubMedCrossRef
117.
de Silva DC, Wheatley DN, Herriot R, Brown T, Stevenson DA, Helms P, et al. Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet. 1997;69(1):56–64.PubMedCrossRef
118.
Abo K, Nishio H, Lee MJ, Tsuzuki D, Takahashi T, Yoshida S, et al. A novel single basepair insertion in exon 6 of the Bruton’s tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency. Hum Mutat. 1998;11(4):336.PubMed
119.
Hanley-Lopez J, Estabrooks LL, Stiehm R. Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr. 1998;133(1):141–3.PubMedCrossRef
120.
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol. 1999;107(2):335–9.PubMedCrossRef
121.
Group INBSS. Nijmegen breakage syndrome. Arch Dis Child. 2000;82(5):400–6.CrossRef
122.
Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, et al. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr. 2003;162(12):863–7.PubMedCrossRef
123.
Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, et al. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet. 2004;74(3):545–51.PubMedPubMedCentralCrossRef
124.
de Hingh YC, van der Vossen PW, Gemen EF, Mulder AB, Hop WC, Brus F, et al. Intrinsic abnormalities of lymphocyte counts in children with down syndrome. J Pediatr. 2005;147(6):744–7.PubMedCrossRef
125.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006;142C(2):104–12.PubMedCrossRef
126.
Verstegen RH, Kusters MA, Gemen EF, DE Vries E. Down syndrome B-lymphocyte subpopulations, intrinsic defect or decreased T-lymphocyte help. Pediatr Res. 2010;67(5):563–9.PubMedCrossRef
127.
Paradowska-Stolarz AM. Wolf-Hirschhorn syndrome (WHS)—literature review on the features of the syndrome. Adv Clin Exp Med. 2014;23(3):485–9.PubMedCrossRef
128.
Sebastio G, Sperandeo MP, Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011;157C(1):54–62.PubMedCrossRef
129.
Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol. 2015;170(4):457–71.PubMedPubMedCentralCrossRef
130.
MacFarland S, Hartung H. Pancytopenia in a patient with methylmalonic acidemia. Blood. 2015;125(11):1840.PubMedCrossRef
131.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, et al. Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options—a retrospective analysis. J Clin Immunol. 2015.
Metadaten
Titel
Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia
verfasst von
Soma Jyonouchi
Artemio M. Jongco
Jennifer Puck
Kathleen E. Sullivan
Publikationsdatum
28.03.2017
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 4/2017
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-017-0388-4

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