Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

<p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in t...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Antoccia Antonio [verfasserIn] Ferrari Francesca [verfasserIn] Angelino Giulia [verfasserIn] Scarselli Alessia [verfasserIn] Folgori Laura [verfasserIn] Chessa Luciana [verfasserIn] Finocchi Andrea [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2010

Übergeordnetes Werk:	In: Italian Journal of Pediatrics - BMC, 2004, 36(2010), 1, p 29
Übergeordnetes Werk:	volume:36 ; year:2010 ; number:1, p 29

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.1186/1824-7288-36-29

Katalog-ID:	DOAJ004594061

Internformat


LEADER	01000caa a22002652 4500
001	DOAJ004594061
003	DE-627
005	20230502212407.0
007	cr uuu---uuuuu
008	230225s2010 xx \|\|\|\|\|o 00\| \|\|eng c
024	7		\|a 10.1186/1824-7288-36-29 \|2 doi
035			\|a (DE-627)DOAJ004594061
035			\|a (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa
040			\|a DE-627 \|b ger \|c DE-627 \|e rakwb
041			\|a eng
050		0	\|a RJ1-570
100	0		\|a Antoccia Antonio \|e verfasserin \|4 aut
245	1	0	\|a Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
264		1	\|c 2010
336			\|a Text \|b txt \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<
653		0	\|a Pediatrics
700	0		\|a Ferrari Francesca \|e verfasserin \|4 aut
700	0		\|a Angelino Giulia \|e verfasserin \|4 aut
700	0		\|a Scarselli Alessia \|e verfasserin \|4 aut
700	0		\|a Folgori Laura \|e verfasserin \|4 aut
700	0		\|a Chessa Luciana \|e verfasserin \|4 aut
700	0		\|a Finocchi Andrea \|e verfasserin \|4 aut
773	0	8	\|i In \|t Italian Journal of Pediatrics \|d BMC, 2004 \|g 36(2010), 1, p 29 \|w (DE-627)352108029 \|w (DE-600)2084688-5 \|x 18247288 \|7 nnns
773	1	8	\|g volume:36 \|g year:2010 \|g number:1, p 29
856	4	0	\|u https://doi.org/10.1186/1824-7288-36-29 \|z kostenfrei
856	4	0	\|u https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa \|z kostenfrei
856	4	0	\|u http://www.ijponline.net/content/36/1/29 \|z kostenfrei
856	4	2	\|u https://doaj.org/toc/1720-8424 \|y Journal toc \|z kostenfrei
856	4	2	\|u https://doaj.org/toc/1824-7288 \|y Journal toc \|z kostenfrei
912			\|a GBV_USEFLAG_A
912			\|a SYSFLAG_A
912			\|a GBV_DOAJ
912			\|a SSG-OLC-PHA
912			\|a GBV_ILN_11
912			\|a GBV_ILN_20
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_95
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_230
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_602
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4700
951			\|a AR
952			\|d 36 \|j 2010 \|e 1, p 29

Indexfelder

author_variant	a a aa f f ff a g ag s a sa f l fl c l cl f a fa
matchkey_str	article:18247288:2010----::uaeugauoaoiadobndmuoeiinyeelnaait
hierarchy_sort_str	2010
callnumber-subject-code	RJ
publishDate	2010
allfields	10.1186/1824-7288-36-29 doi (DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa DE-627 ger DE-627 rakwb eng RJ1-570 Antoccia Antonio verfasserin aut Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p< Pediatrics Ferrari Francesca verfasserin aut Angelino Giulia verfasserin aut Scarselli Alessia verfasserin aut Folgori Laura verfasserin aut Chessa Luciana verfasserin aut Finocchi Andrea verfasserin aut In Italian Journal of Pediatrics BMC, 2004 36(2010), 1, p 29 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:36 year:2010 number:1, p 29 https://doi.org/10.1186/1824-7288-36-29 kostenfrei https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa kostenfrei http://www.ijponline.net/content/36/1/29 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 36 2010 1, p 29
spelling	10.1186/1824-7288-36-29 doi (DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa DE-627 ger DE-627 rakwb eng RJ1-570 Antoccia Antonio verfasserin aut Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p< Pediatrics Ferrari Francesca verfasserin aut Angelino Giulia verfasserin aut Scarselli Alessia verfasserin aut Folgori Laura verfasserin aut Chessa Luciana verfasserin aut Finocchi Andrea verfasserin aut In Italian Journal of Pediatrics BMC, 2004 36(2010), 1, p 29 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:36 year:2010 number:1, p 29 https://doi.org/10.1186/1824-7288-36-29 kostenfrei https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa kostenfrei http://www.ijponline.net/content/36/1/29 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 36 2010 1, p 29
allfields_unstemmed	10.1186/1824-7288-36-29 doi (DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa DE-627 ger DE-627 rakwb eng RJ1-570 Antoccia Antonio verfasserin aut Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p< Pediatrics Ferrari Francesca verfasserin aut Angelino Giulia verfasserin aut Scarselli Alessia verfasserin aut Folgori Laura verfasserin aut Chessa Luciana verfasserin aut Finocchi Andrea verfasserin aut In Italian Journal of Pediatrics BMC, 2004 36(2010), 1, p 29 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:36 year:2010 number:1, p 29 https://doi.org/10.1186/1824-7288-36-29 kostenfrei https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa kostenfrei http://www.ijponline.net/content/36/1/29 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 36 2010 1, p 29
allfieldsGer	10.1186/1824-7288-36-29 doi (DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa DE-627 ger DE-627 rakwb eng RJ1-570 Antoccia Antonio verfasserin aut Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p< Pediatrics Ferrari Francesca verfasserin aut Angelino Giulia verfasserin aut Scarselli Alessia verfasserin aut Folgori Laura verfasserin aut Chessa Luciana verfasserin aut Finocchi Andrea verfasserin aut In Italian Journal of Pediatrics BMC, 2004 36(2010), 1, p 29 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:36 year:2010 number:1, p 29 https://doi.org/10.1186/1824-7288-36-29 kostenfrei https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa kostenfrei http://www.ijponline.net/content/36/1/29 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 36 2010 1, p 29
allfieldsSound	10.1186/1824-7288-36-29 doi (DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa DE-627 ger DE-627 rakwb eng RJ1-570 Antoccia Antonio verfasserin aut Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p< Pediatrics Ferrari Francesca verfasserin aut Angelino Giulia verfasserin aut Scarselli Alessia verfasserin aut Folgori Laura verfasserin aut Chessa Luciana verfasserin aut Finocchi Andrea verfasserin aut In Italian Journal of Pediatrics BMC, 2004 36(2010), 1, p 29 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:36 year:2010 number:1, p 29 https://doi.org/10.1186/1824-7288-36-29 kostenfrei https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa kostenfrei http://www.ijponline.net/content/36/1/29 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 36 2010 1, p 29
language	English
source	In Italian Journal of Pediatrics 36(2010), 1, p 29 volume:36 year:2010 number:1, p 29
sourceStr	In Italian Journal of Pediatrics 36(2010), 1, p 29 volume:36 year:2010 number:1, p 29
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Pediatrics
isfreeaccess_bool	true
container_title	Italian Journal of Pediatrics
authorswithroles_txt_mv	Antoccia Antonio @@aut@@ Ferrari Francesca @@aut@@ Angelino Giulia @@aut@@ Scarselli Alessia @@aut@@ Folgori Laura @@aut@@ Chessa Luciana @@aut@@ Finocchi Andrea @@aut@@
publishDateDaySort_date	2010-01-01T00:00:00Z
hierarchy_top_id	352108029
id	DOAJ004594061
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ004594061</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502212407.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230225s2010 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/1824-7288-36-29</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ004594061</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RJ1-570</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Antoccia Antonio</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2010</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a"><p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ferrari Francesca</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Angelino Giulia</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Scarselli Alessia</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Folgori Laura</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Chessa Luciana</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Finocchi Andrea</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Italian Journal of Pediatrics</subfield><subfield code="d">BMC, 2004</subfield><subfield code="g">36(2010), 1, p 29</subfield><subfield code="w">(DE-627)352108029</subfield><subfield code="w">(DE-600)2084688-5</subfield><subfield code="x">18247288</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:36</subfield><subfield code="g">year:2010</subfield><subfield code="g">number:1, p 29</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1186/1824-7288-36-29</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://www.ijponline.net/content/36/1/29</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/1720-8424</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/1824-7288</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">36</subfield><subfield code="j">2010</subfield><subfield code="e">1, p 29</subfield></datafield></record></collection>
callnumber-first	R - Medicine
author	Antoccia Antonio
spellingShingle	Antoccia Antonio misc RJ1-570 misc Pediatrics Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
authorStr	Antoccia Antonio
ppnlink_with_tag_str_mv	@@773@@(DE-627)352108029
format	electronic Article
delete_txt_mv	keep
author_role	aut aut aut aut aut aut aut
collection	DOAJ
remote_str	true
callnumber-label	RJ1-570
illustrated	Not Illustrated
issn	18247288
topic_title	RJ1-570 Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
topic	misc RJ1-570 misc Pediatrics
topic_unstemmed	misc RJ1-570 misc Pediatrics
topic_browse	misc RJ1-570 misc Pediatrics
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
format_main_str_mv	Text Zeitschrift/Artikel
carriertype_str_mv	cr
hierarchy_parent_title	Italian Journal of Pediatrics
hierarchy_parent_id	352108029
hierarchy_top_title	Italian Journal of Pediatrics
isfreeaccess_txt	true
familylinks_str_mv	(DE-627)352108029 (DE-600)2084688-5
title	Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
ctrlnum	(DE-627)DOAJ004594061 (DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa
title_full	Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
author_sort	Antoccia Antonio
journal	Italian Journal of Pediatrics
journalStr	Italian Journal of Pediatrics
callnumber-first-code	R
lang_code	eng
isOA_bool	true
recordtype	marc
publishDateSort	2010
contenttype_str_mv	txt
author_browse	Antoccia Antonio Ferrari Francesca Angelino Giulia Scarselli Alessia Folgori Laura Chessa Luciana Finocchi Andrea
container_volume	36
class	RJ1-570
format_se	Elektronische Aufsätze
author-letter	Antoccia Antonio
doi_str_mv	10.1186/1824-7288-36-29
author2-role	verfasserin
title_sort	cutaneous granulomatosis and combined immunodeficiency revealing ataxia-telangiectasia: a case report
callnumber	RJ1-570
title_auth	Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
abstract	<p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<
abstractGer	<p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<
abstract_unstemmed	<p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700
container_issue	1, p 29
title_short	Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
url	https://doi.org/10.1186/1824-7288-36-29 https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa http://www.ijponline.net/content/36/1/29 https://doaj.org/toc/1720-8424 https://doaj.org/toc/1824-7288
remote_bool	true
author2	Ferrari Francesca Angelino Giulia Scarselli Alessia Folgori Laura Chessa Luciana Finocchi Andrea
author2Str	Ferrari Francesca Angelino Giulia Scarselli Alessia Folgori Laura Chessa Luciana Finocchi Andrea
ppnlink	352108029
callnumber-subject	RJ - Pediatrics
mediatype_str_mv	c
isOA_txt	true
hochschulschrift_bool	false
doi_str	10.1186/1824-7288-36-29
callnumber-a	RJ1-570
up_date	2024-07-04T00:21:15.447Z
_version_	1803605744496410624
fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ004594061</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502212407.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230225s2010 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/1824-7288-36-29</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ004594061</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ3dbcf012ec1241e59a8a6dba5cee53aa</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RJ1-570</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Antoccia Antonio</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2010</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a"><p<Abstract</p< <p<Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it<ataxia-telangiectasia mutated </it<(<it<ATM</it<) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p< <p<We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p< <p<A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p<</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ferrari Francesca</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Angelino Giulia</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Scarselli Alessia</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Folgori Laura</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Chessa Luciana</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Finocchi Andrea</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Italian Journal of Pediatrics</subfield><subfield code="d">BMC, 2004</subfield><subfield code="g">36(2010), 1, p 29</subfield><subfield code="w">(DE-627)352108029</subfield><subfield code="w">(DE-600)2084688-5</subfield><subfield code="x">18247288</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:36</subfield><subfield code="g">year:2010</subfield><subfield code="g">number:1, p 29</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1186/1824-7288-36-29</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/3dbcf012ec1241e59a8a6dba5cee53aa</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://www.ijponline.net/content/36/1/29</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/1720-8424</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/1824-7288</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">36</subfield><subfield code="j">2010</subfield><subfield code="e">1, p 29</subfield></datafield></record></collection>
score	7.4012985

Nicht das Richtige dabei?

Schreiben Sie uns!

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Nicht das Richtige dabei?

Zugang & Verfügbarkeit

Vorhandene Bände

Nicht das Richtige dabei?