-
1
-
-
85063796427
-
-
Available online: accessed on 18 April 2017
-
The Central Bureau of Statistics (Israel). Available online: http://www.cbs.gov.il/reader/?MIval=cw_usr_view_SHTML&ID=638 (accessed on 18 April 2017).
-
-
-
-
2
-
-
84917684708
-
Continuous decrease of consanguineous marriages among Arabs in Israel
-
CrossRef PubMed
-
Na’amnih, W.; Romano-Zelekha, O.; Kabaha, A.; Rubin, L.P.; Bilenko, N.; Jaber, I.; Honovich, M.; Shohat, T. Continuous decrease of consanguineous marriages among arabs in Israel. Am. J. Hum. Biol. 2015, 27, 94–98. [CrossRef] [PubMed]
-
(2015)
Am. J. Hum. Biol.
, vol.27
, pp. 94-98
-
-
Na’amnih, W.1
Romano-Zelekha, O.2
Kabaha, A.3
Rubin, L.P.4
Bilenko, N.5
Jaber, I.6
Honovich, M.7
Shohat, T.8
-
3
-
-
0038002404
-
The impact of congenital malformations and mendelian diseases on infant mortality in Israel
-
Zlotogora, J.; Leventhal, A.; Amitai, Y. The impact of congenital malformations and mendelian diseases on infant mortality in Israel. Isr. Med. Assoc. J. 2003, 5, 416–418. [PubMed]
-
(2003)
Isr. Med. Assoc. J.
, vol.5
, pp. 416-418
-
-
Zlotogora, J.1
Leventhal, A.2
Amitai, Y.3
-
4
-
-
0036843771
-
The incidence of primary immunodeficiency syndromes in Israel
-
Golan, H.; Dalal, I.; Garty, B.Z.; Schlesinger, Levy, J.; Handzel, Z.; Wolach, B.; Rottem, M.; Goldberg, A.; Tamir, R.; et al. The incidence of primary immunodeficiency syndromes in Israel. Isr. Med. Assoc. J. 2002, 4, 868–871. [PubMed]
-
(2002)
Isr. Med. Assoc. J.
, vol.4
, pp. 868-871
-
-
Golan, H.1
Dalal, I.2
Garty, B.Z.3
Schlesinger, L.J.4
Handzel, Z.5
Wolach, B.6
Rottem, M.7
Goldberg, A.8
Tamir, R.9
-
5
-
-
85015165537
-
Incidence of typically severe primary immunodeficiency diseases in consanguineous and non-consanguineous populations
-
Broides, A.; Nahum, A.; Mandola, A.B.; Rozner, L.; Pinsk, V.; Ling, G.; Yerushalmi, B.; Levy, J.; Givon-Lavi, N. Incidence of typically severe primary immunodeficiency diseases in consanguineous and non-consanguineous populations. J. Clin. Immunol. 2017, 37, 295–300. [PubMed]
-
(2017)
J. Clin. Immunol.
, vol.37
, pp. 295-300
-
-
Broides, A.1
Nahum, A.2
Mandola, A.B.3
Rozner, L.4
Pinsk, V.5
Ling, G.6
Yerushalmi, B.7
Levy, J.8
Givon-Lavi, N.9
-
6
-
-
85063774604
-
-
Ministry of Health (Israel). Available online: accessed on 14 April 2017
-
Ministry of Health (Israel). Available online: http://www.health.gov.il/hozer/bz19_2015.pdf (accessed on 14 April 2017).
-
-
-
-
7
-
-
85063777569
-
The national program for neonatal screening
-
Almashanu, S.; Sela, B.A.; Zlotogora, J. The national program for neonatal screening. Isr. J. Pediatr. 2008, 65, 6–9.
-
(2008)
Isr. J. Pediatr.
, vol.65
, pp. 6-9
-
-
Almashanu, S.1
Sela, B.A.2
Zlotogora, J.3
-
8
-
-
84885189606
-
The natural history of children with severe combined immunodeficiency: Baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901
-
CrossRef PubMed
-
Dvorak, C.C.; Cowan, M.J.; Logan, B.R.; Notarangelo, L.D.; Griffith, L.M.; Puck, J.M.; Kohn, D.B.; Shearer, W.T.; O’Reilly, R.J.; Fleishe, T.A.; et al. The natural history of children with severe combined immunodeficiency: Baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J. Clin. Immunol. 2014, 33, 1156–1164. [CrossRef] [PubMed]
-
(2014)
J. Clin. Immunol.
, vol.33
, pp. 1156-1164
-
-
Dvorak, C.C.1
Cowan, M.J.2
Logan, B.R.3
Notarangelo, L.D.4
Griffith, L.M.5
Puck, J.M.6
Kohn, D.B.7
Shearer, W.T.8
O’Reilly, R.J.9
Fleishe, T.A.10
-
9
-
-
84906543118
-
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
-
CrossRef PubMed
-
Kwan, A.; Abraham, R.S.; Currier, R.; Brower, A.; Andruszewski, K.; Abbott, J.K.; Baker, M.; Ballow, M.; Bartoshesky, L.E.; Bonagura, V.R.; et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312, 729–738. [CrossRef] [PubMed]
-
(2014)
JAMA
, vol.312
, pp. 729-738
-
-
Kwan, A.1
Abraham, R.S.2
Currier, R.3
Brower, A.4
Andruszewski, K.5
Abbott, J.K.6
Baker, M.7
Ballow, M.8
Bartoshesky, L.E.9
Bonagura, V.R.10
-
10
-
-
79953082197
-
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening brief report neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome
-
CrossRef PubMed
-
Brown, L.; Xu-Bayford, J.; Allwood, Z.; Slatter, M.; Cant, A.; Davies, E.G.; Veys, P.; Gennery, A.R.; Gaspar, H.B. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening brief report neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome. Blood 2011, 117, 3243–3246. [CrossRef] [PubMed]
-
(2011)
Blood
, vol.117
, pp. 3243-3246
-
-
Brown, L.1
Xu-Bayford, J.2
Allwood, Z.3
Slatter, M.4
Cant, A.5
Davies, E.G.6
Veys, P.7
Gennery, A.R.8
Gaspar, H.B.9
-
11
-
-
77953941716
-
Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program
-
Baker, M.W.; Laessig, R.H.; Katcher, M.L.; Routes, J.M.; Grossman, W.J.; Verbsky, J.; Kurtycz, D.F.; Brokopp, C.D. Implementing routine testing for severe combined immunodeficiency within wisconsin’s newborn screening program. Public Health Rep. 2010, 125, 88–95. [PubMed]
-
(2010)
Public Health Rep
, vol.125
, pp. 88-95
-
-
Baker, M.W.1
Laessig, R.H.2
Katcher, M.L.3
Routes, J.M.4
Grossman, W.J.5
Verbsky, J.6
Kurtycz, D.F.7
Brokopp, C.D.8
-
12
-
-
84871390644
-
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes
-
CrossRef PubMed
-
Lev, A.; Simon, A.J.; Trakhtenbrot, L.; Goldstein, I.; Nagar, M.; Stepensky, P.; Rechavi, G.; Amariglio, N.; Somech1, R. Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. Clin. Dev. Immunol. 2012, 2012, 9. [CrossRef] [PubMed]
-
(2012)
Clin. Dev. Immunol.
, vol.2012
, pp. 9
-
-
Lev, A.1
Simon, A.J.2
Trakhtenbrot, L.3
Goldstein, I.4
Nagar, M.5
Stepensky, P.6
Rechavi, G.7
Amariglio, N.8
Somech1, R.9
-
13
-
-
70449732278
-
Reduced central tolerance in omenn syndrome leads to immature self-reactive oligoclonal T cells
-
CrossRef PubMed
-
Somech, R.; Simon, A.J.; MSc, A.L.; Dalal, I.; Spirer, Z.; Goldstein, I.; Nagar, M.; Amariglio, N.; Rechavi, G. Reduced central tolerance in omenn syndrome leads to immature self-reactive oligoclonal T cells. J. Allergy Clin. Immunol. 2009, 124, 793–800. [CrossRef] [PubMed]
-
(2009)
J. Allergy Clin. Immunol.
, vol.124
, pp. 793-800
-
-
Somech, R.1
Simon, A.J.2
MSc, A.L.3
Dalal, I.4
Spirer, Z.5
Goldstein, I.6
Nagar, M.7
Amariglio, N.8
Rechavi, G.9
-
14
-
-
77449115940
-
Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency
-
CrossRef PubMed
-
Amariglio, N.; Lev, A.; Simon, A.; Rosenthal, E.; Spirer, Z.; Efrati, O.; Broides, A.; Rechavi, G.; Somech, R. Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency. Pediatr. Res. 2010, 67, 211–216. [CrossRef] [PubMed]
-
(2010)
Pediatr. Res.
, vol.67
, pp. 211-216
-
-
Amariglio, N.1
Lev, A.2
Simon, A.3
Rosenthal, E.4
Spirer, Z.5
Efrati, O.6
Broides, A.7
Rechavi, G.8
Somech, R.9
-
15
-
-
84902375695
-
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
-
CrossRef PubMed
-
Kraus, M.; Lev, A.; Simon, A.J.; Levran, I.; Nissenkorn, A.; Levi, Y.B.; Berkun, Y.; Efrati, O.; Amariglio, N.; Rechavi, G.; Somech, R. Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. J. Clin. Immunol. 2014, 34, 561–572. [CrossRef] [PubMed]
-
(2014)
J. Clin. Immunol.
, vol.34
, pp. 561-572
-
-
Kraus, M.1
Lev, A.2
Simon, A.J.3
Levran, I.4
Nissenkorn, A.5
Levi, Y.B.6
Berkun, Y.7
Efrati, O.8
Amariglio, N.9
Rechavi, G.10
Somech, R.11
-
16
-
-
84924975971
-
Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome
-
CrossRef PubMed
-
Dar, N.; Gothelf, D.; Korn, D.; Frisch, A.; Weizman, A.; Michaelovsky, E.; Carmel, M.; Yeshayahu, Y.; Dubnov-Raz, G.; Pessach, I.M.; et al. Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome. Pediatr. Res. 2015, 77, 579–585. [CrossRef] [PubMed]
-
(2015)
Pediatr. Res.
, vol.77
, pp. 579-585
-
-
Dar, N.1
Gothelf, D.2
Korn, D.3
Frisch, A.4
Weizman, A.5
Michaelovsky, E.6
Carmel, M.7
Yeshayahu, Y.8
Dubnov-Raz, G.9
Pessach, I.M.10
-
17
-
-
84856251374
-
The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients
-
CrossRef PubMed
-
Lev, A.; Simon, A.J.; Bareket, M.; Bielorai, B.; Hutt, D.; Amariglio, N.; Rechavi, G.; Somech, R. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS ONE 2012, 7, e30494. [CrossRef] [PubMed]
-
(2012)
PLoS ONE
, vol.7
-
-
Lev, A.1
Simon, A.J.2
Bareket, M.3
Bielorai, B.4
Hutt, D.5
Amariglio, N.6
Rechavi, G.7
Somech, R.8
-
18
-
-
84857055033
-
T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype
-
CrossRef PubMed
-
Amariglio, N.; Klein, A.; Dagan, L.; Lev, A.; Padeh, S.; Rechavi, G.; Berkun, Y.; Somech, R. T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype. J. Clin. Immunol. 2011, 31, 1021–1028. [CrossRef] [PubMed]
-
(2011)
J. Clin. Immunol.
, vol.31
, pp. 1021-1028
-
-
Amariglio, N.1
Klein, A.2
Dagan, L.3
Lev, A.4
Padeh, S.5
Rechavi, G.6
Berkun, Y.7
Somech, R.8
-
19
-
-
84923917237
-
Timely and spatially regulated maturation of B and T cell repertoire during human fetal development
-
CrossRef PubMed
-
Rechavi, E.; Lev, A.; Lee, Y.N.; Simon, A.J.; Yinon, Y.; Lipitz, S.; Amariglio, N.; Weisz, B.; Notarangelo, L.D.; Somech, R. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci. Transl. Med. 2015, 7, 1–12. [CrossRef] [PubMed]
-
(2015)
Sci. Transl. Med.
, vol.7
, pp. 1-12
-
-
Rechavi, E.1
Lev, A.2
Lee, Y.N.3
Simon, A.J.4
Yinon, Y.5
Lipitz, S.6
Amariglio, N.7
Weisz, B.8
Notarangelo, L.D.9
Somech, R.10
-
20
-
-
84881521551
-
Newborn screening for severe T and B cell immunodeficiency in Israel: A pilot study
-
Somech, R.; Lev, A.; Simon, A.J.; Korn, D.; Garty, B.Z.; Amariglio, N.; Rechavi, G.; Almashanu, S.; Zlotogora, J.; Etzioni, A. Newborn screening for severe T and B cell immunodeficiency in Israel: A pilot study. Isr. Med. Assoc. J. 2013, 15, 404–409. [PubMed]
-
(2013)
Isr. Med. Assoc. J.
, vol.15
, pp. 404-409
-
-
Somech, R.1
Lev, A.2
Simon, A.J.3
Korn, D.4
Garty, B.Z.5
Amariglio, N.6
Rechavi, G.7
Almashanu, S.8
Zlotogora, J.9
Etzioni, A.10
-
21
-
-
84929844022
-
A call to include severe combined immunodeficiency in newborn screening program
-
CrossRef PubMed
-
Somech, R.; Etzioni, A. A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med. J. 2014, 5, e0001. [CrossRef] [PubMed]
-
(2014)
Rambam Maimonides Med. J.
, vol.5
, pp. e0001
-
-
Somech, R.1
Etzioni, A.2
-
22
-
-
84929836617
-
TREC based newborn screening for severe combined immunodeficiency disease: A systematic review
-
CrossRef PubMed
-
Van Der Spek, J.; Groenwold, R.H.H.; Van Der Burg, M.; Van Montfrans, J.M. TREC based newborn screening for severe combined immunodeficiency disease: A systematic review. J. Clin. Immunol. 2015, 35, 416–430. [CrossRef] [PubMed]
-
(2015)
J. Clin. Immunol.
, vol.35
, pp. 416-430
-
-
Van Der Spek, J.1
Groenwold, R.H.H.2
Van Der Burg, M.3
Van Montfrans, J.M.4
-
23
-
-
85063790086
-
-
Available online: accessed on 24 May 2017
-
PerkinElmer Enlite Neonatal TREC Kit. Available online: https://newbornscreening.perkinelmer.com/files/358/EnLite_Neonatal_TREC_BRO_(ROW)_1599-9774-01_.pdf (accessed on 24 May 2017).
-
PerkinElmer Enlite Neonatal TREC Kit
-
-
-
24
-
-
85025074693
-
Newborn screening for severe primary immunodeficiency diseases in Sweden — A 2-year pilot TREC and KREC screening study
-
CrossRef PubMed
-
Barbaro, M.; Ohlsson, A.; Borte, S.; Jonsson, S.; Zetterström, R.H.; King, J.; Winiarski, J.; Döbeln, U.V.; Hammarström, L. Newborn screening for severe primary immunodeficiency diseases in sweden—A 2-year pilot TREC and KREC screening study. J. Clin. Immunol. 2016, 37, 1–10. [CrossRef] [PubMed]
-
(2016)
J. Clin. Immunol.
, vol.37
, pp. 1-10
-
-
Barbaro, M.1
Ohlsson, A.2
Borte, S.3
Jonsson, S.4
Zetterström, R.H.5
King, J.6
Winiarski, J.7
Döbeln, U.V.8
Hammarström, L.9
-
25
-
-
80051791964
-
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or omenn syndrome
-
CrossRef PubMed
-
Dalal, I.; Tasher, D.; Somech, R.; Etzioni, A.; Garti, B.Z.; Lev, D.; Cohen, S.; Somekh, E.; Leshinsky-Silver, E. Novel mutations in RAG1/2 and ADA genes in israeli patients presenting with T-B-SCID or omenn syndrome. Clin. Immunol. 2011, 140, 284–290. [CrossRef] [PubMed]
-
(2011)
Clin. Immunol.
, vol.140
, pp. 284-290
-
-
Dalal, I.1
Tasher, D.2
Somech, R.3
Etzioni, A.4
Garti, B.Z.5
Lev, D.6
Cohen, S.7
Somekh, E.8
Leshinsky-Silver, E.9
-
26
-
-
0035917489
-
ARTEMIS, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
-
Moshous, D.; Callebaut, I.; de Chasseval, R.; Corneo, B.; Cavazzana-Calvo, M.; Le Deist, F.; Tezcan, I.; Sanal, O.; Bertrand, Y.; Philippe, N.; et al. ARTEMIS, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001, 105, 177–186. [CrossRef]
-
(2001)
Cell
, vol.105
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
de Chasseval, R.3
Corneo, B.4
Cavazzana-Calvo, M.5
Le Deist, F.6
Tezcan, I.7
Sanal, O.8
Bertrand, Y.9
Philippe, N.10
-
27
-
-
84949125497
-
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
-
CrossRef PubMed
-
Felgentreff, K.; Lee, Y.N.; Frugoni, F.; Du, L.; van der Burg, M.; Giliani, S.; Tezcan, I.; Reisli, I.; Mejstříková, E.; de Villartay, J.P.; et al. Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. J. Allergy Clin. Immunol. 2015, 136, 140–150. [CrossRef] [PubMed]
-
(2015)
J. Allergy Clin. Immunol.
, vol.136
, pp. 140-150
-
-
Felgentreff, K.1
Lee, Y.N.2
Frugoni, F.3
Du, L.4
van der Burg, M.5
Giliani, S.6
Tezcan, I.7
Reisli, I.8
Mejstříková, E.9
de Villartay, J.P.10
-
28
-
-
84929707133
-
History and current status of newborn screening for severe combined immunodeficiency
-
CrossRef PubMed
-
Kwan, A.; Puck, J.M. History and current status of newborn screening for severe combined immunodeficiency. Semin. Perinatol. 2015, 39, 194–205. [CrossRef] [PubMed]
-
(2015)
Semin. Perinatol.
, vol.39
, pp. 194-205
-
-
Kwan, A.1
Puck, J.M.2
-
29
-
-
0037097787
-
A founder mutation in ARTEMIS, an SNM1-Like protein, causes SCID in athabascan-speaking native Americans
-
CrossRef PubMed
-
Li, L.; Moshous, D.; Zhou, Y.; Wang, J.; Xie, G.; Salido, E.; Hu, D.; de Villartay, J.P.; Cowan, M.J. A founder mutation in ARTEMIS, an SNM1-Like protein, causes SCID in athabascan-speaking native americans. J. Immunol. 2002, 168, 6323–6329. [CrossRef] [PubMed]
-
(2002)
J. Immunol.
, vol.168
, pp. 6323-6329
-
-
Li, L.1
Moshous, D.2
Zhou, Y.3
Wang, J.4
Xie, G.5
Salido, E.6
Hu, D.7
de Villartay, J.P.8
Cowan, M.J.9
-
30
-
-
84858650277
-
Brief report neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
-
CrossRef PubMed
-
Borte, S.; von Döbeln, U.; Fasth, A.; Wang, N.; Janzi, M.; Winiarski, J.; Sack, U.; Pan-Hammarström, Q.; Borte, M.; Hammarström, L. Brief report neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012, 119, 1–4. [CrossRef] [PubMed]
-
(2012)
Blood
, vol.119
, pp. 1-4
-
-
Borte, S.1
von Döbeln, U.2
Fasth, A.3
Wang, N.4
Janzi, M.5
Winiarski, J.6
Sack, U.7
Pan-Hammarström, Q.8
Borte, M.9
Hammarström, L.10
-
31
-
-
84882791221
-
Newborn screening for SCID and T cell lymphopenia in California: Results of the first two years
-
CrossRef PubMed
-
Kwan, A.; Church, J.A.; Cowan, M.J.; Agarwal, R.; Kapoor, N.; Kohn, D.B.; Lewis, D.B.; McGhee, S.A.; Moore, T.B.; Stiehm, E.R.; et al. Newborn screening for SCID and T Cell lymphopenia in california: Results of the first two years. J. Allergy Clin. Immunol. 2013, 132, 140–150. [CrossRef] [PubMed]
-
(2013)
J. Allergy Clin. Immunol.
, vol.132
, pp. 140-150
-
-
Kwan, A.1
Church, J.A.2
Cowan, M.J.3
Agarwal, R.4
Kapoor, N.5
Kohn, D.B.6
Lewis, D.B.7
McGhee, S.A.8
Moore, T.B.9
Stiehm, E.R.10
-
32
-
-
84862850714
-
Defining combined immunodeficiency
-
CrossRef PubMed
-
Roifman, C.M.; Somech, R.; Kavadas, F.; Pires, L.; Nahum, A.; Dalal, I.; Grunebaum, E. Defining combined immunodeficiency. J. Allergy Clin. Immunol. 2012, 130, 177–183. [CrossRef] [PubMed]
-
(2012)
J. Allergy Clin. Immunol.
, vol.130
, pp. 177-183
-
-
Roifman, C.M.1
Somech, R.2
Kavadas, F.3
Pires, L.4
Nahum, A.5
Dalal, I.6
Grunebaum, E.7
-
33
-
-
84875221248
-
Thymic function in MHC class II-deficient patients
-
CrossRef PubMed
-
Lev, A.; Simon, A.J.; Broides, A.; Levi, J.; Garty, B.Z.; Rosenthal, E.; Amariglio, N.; Rechavi, G.; Somech, R. Thymic function in MHC class II-deficient patients. J. Allergy Clin. Immunol. 2013, 131, 831–839. [CrossRef] [PubMed]
-
(2013)
J. Allergy Clin. Immunol.
, vol.131
, pp. 831-839
-
-
Lev, A.1
Simon, A.J.2
Broides, A.3
Levi, J.4
Garty, B.Z.5
Rosenthal, E.6
Amariglio, N.7
Rechavi, G.8
Somech, R.9
|