Multisystem anomalies in severe combined immunodeficiency with mutant BCLLLB
Severe combined immunodeficiency (SCID) was detected in a newborn before the onset of infections by means of screening of T-cell-receptor excision circles, a biomarker for thymic output. The patient's abnormalities, when recapitulated in bcllIba-deficient zebrafish, were reversed by ectopic expression of functionally intact human BCLllB but not mutant human BCLIIB. Coupling exome sequencing with an evaluation of candidate genes in human hematopoietic stem cells and in zebrafish revealed that a constitutional BCLIIB mutation caused human multisystem anomalies with SCID and also revealed a prethymic role for BCLIIB in hematopoietic progenitors..
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
2016 |
|---|---|
| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:375 |
|---|---|
| Enthalten in: |
The New England journal of medicine - 375(2016), 22, Seite 2165 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Puck, Jennifer M [VerfasserIn] |
|---|
| BKL: | |
|---|---|
| Themen: |
Diagnosis |
| RVK: |
|---|
| Förderinstitution / Projekttitel: |
|
|---|
| PPN (Katalog-ID): |
OLC1989052363 |
|---|
| LEADER | 01000caa a2200265 4500 | ||
|---|---|---|---|
| 001 | OLC1989052363 | ||
| 003 | DE-627 | ||
| 005 | 20230508075654.0 | ||
| 007 | tu | ||
| 008 | 170207s2016 xx ||||| 00| ||eng c | ||
| 028 | 5 | 2 | |a PQ20170501 |
| 035 | |a (DE-627)OLC1989052363 | ||
| 035 | |a (DE-599)GBVOLC1989052363 | ||
| 035 | |a (PRQ)g547-d3f8cc1a3f732c7127bc9f499c32bb79700e11a30c26a94139018f8a82b7fc3d0 | ||
| 035 | |a (KEY)0171808820160000375002202165multisystemanomaliesinseverecombinedimmunodeficien | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | 4 | |a 610 |q DNB |
| 084 | |a XA 10000 |q AVZ |2 rvk | ||
| 084 | |a 44.60 |2 bkl | ||
| 084 | |a 44.00 |2 bkl | ||
| 100 | 1 | |a Puck, Jennifer M |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Multisystem anomalies in severe combined immunodeficiency with mutant BCLLLB |
| 264 | 1 | |c 2016 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 520 | |a Severe combined immunodeficiency (SCID) was detected in a newborn before the onset of infections by means of screening of T-cell-receptor excision circles, a biomarker for thymic output. The patient's abnormalities, when recapitulated in bcllIba-deficient zebrafish, were reversed by ectopic expression of functionally intact human BCLllB but not mutant human BCLIIB. Coupling exome sequencing with an evaluation of candidate genes in human hematopoietic stem cells and in zebrafish revealed that a constitutional BCLIIB mutation caused human multisystem anomalies with SCID and also revealed a prethymic role for BCLIIB in hematopoietic progenitors. | ||
| 650 | 4 | |a Gene expression | |
| 650 | 4 | |a Severe combined immunodeficiency | |
| 650 | 4 | |a Research | |
| 650 | 4 | |a Diagnosis | |
| 650 | 4 | |a Health aspects | |
| 650 | 4 | |a Infants (Newborn) | |
| 700 | 1 | |a Yu, Jason |4 oth | |
| 700 | 1 | |a Punwani, Divya |4 oth | |
| 700 | 1 | |a Kwan, Antonia |4 oth | |
| 700 | 1 | |a Rana, Sadhna |4 oth | |
| 700 | 1 | |a Cowan, Morton J |4 oth | |
| 700 | 1 | |a Zhang, Yong |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |t The New England journal of medicine |d Waltham, Mass. : MMS, 1928 |g 375(2016), 22, Seite 2165 |w (DE-627)129495220 |w (DE-600)207154-X |w (DE-576)014893169 |x 0028-4793 |7 nnns |
| 773 | 1 | 8 | |g volume:375 |g year:2016 |g number:22 |g pages:2165 |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a SYSFLAG_A | ||
| 912 | |a GBV_OLC | ||
| 912 | |a SSG-OLC-PHA | ||
| 912 | |a SSG-OLC-DE-84 | ||
| 912 | |a GBV_ILN_20 | ||
| 912 | |a GBV_ILN_40 | ||
| 912 | |a GBV_ILN_105 | ||
| 912 | |a GBV_ILN_168 | ||
| 912 | |a GBV_ILN_183 | ||
| 912 | |a GBV_ILN_290 | ||
| 912 | |a GBV_ILN_2004 | ||
| 912 | |a GBV_ILN_2006 | ||
| 912 | |a GBV_ILN_2008 | ||
| 912 | |a GBV_ILN_2012 | ||
| 912 | |a GBV_ILN_2021 | ||
| 912 | |a GBV_ILN_2219 | ||
| 912 | |a GBV_ILN_2414 | ||
| 912 | |a GBV_ILN_2424 | ||
| 912 | |a GBV_ILN_4012 | ||
| 912 | |a GBV_ILN_4112 | ||
| 912 | |a GBV_ILN_4125 | ||
| 912 | |a GBV_ILN_4126 | ||
| 912 | |a GBV_ILN_4219 | ||
| 912 | |a GBV_ILN_4256 | ||
| 912 | |a GBV_ILN_4305 | ||
| 912 | |a GBV_ILN_4306 | ||
| 912 | |a GBV_ILN_4310 | ||
| 912 | |a GBV_ILN_4315 | ||
| 912 | |a GBV_ILN_4320 | ||
| 912 | |a GBV_ILN_4323 | ||
| 936 | r | v | |a XA 10000 |
| 936 | b | k | |a 44.60 |q AVZ |
| 936 | b | k | |a 44.00 |q AVZ |
| 951 | |a AR | ||
| 952 | |d 375 |j 2016 |e 22 |h 2165 | ||