Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8

Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA *DQ2, *DR7, *DR3(17), *B8, and/or *B44. Of these, HLA*B44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA *B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA *B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLA*B44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry *DQ2, *DR7, *DR3(17), *B8, or *B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Waldrep, Manda L [verfasserIn] Zhuang, Yingxin Schroeder, Harry W

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2009

Schlagwörter:	Major Histocompatibility Complex Human Leukocyte Antigen Major Histocompatibility Complex Class Susceptibility Allele Major Histocompatibility Complex Allele

Anmerkung:	© Waldrep et al; licensee BioMed Central Ltd. 2009

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 10(2009), 1 vom: 23. Sept.
Übergeordnetes Werk:	volume:10 ; year:2009 ; number:1 ; day:23 ; month:09

Links:	Volltext

DOI / URN:	10.1186/1471-2350-10-100

Katalog-ID:	SPR027485307

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520			\|a Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032
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allfields	10.1186/1471-2350-10-100 doi (DE-627)SPR027485307 (SPR)1471-2350-10-100-e DE-627 ger DE-627 rakwb eng Waldrep, Manda L verfasserin aut Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Waldrep et al; licensee BioMed Central Ltd. 2009 Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213 Zhuang, Yingxin aut Schroeder, Harry W aut Enthalten in BMC medical genetics London : BioMed Central, 2000 10(2009), 1 vom: 23. Sept. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:10 year:2009 number:1 day:23 month:09 https://dx.doi.org/10.1186/1471-2350-10-100 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 10 2009 1 23 09
spelling	10.1186/1471-2350-10-100 doi (DE-627)SPR027485307 (SPR)1471-2350-10-100-e DE-627 ger DE-627 rakwb eng Waldrep, Manda L verfasserin aut Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Waldrep et al; licensee BioMed Central Ltd. 2009 Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213 Zhuang, Yingxin aut Schroeder, Harry W aut Enthalten in BMC medical genetics London : BioMed Central, 2000 10(2009), 1 vom: 23. Sept. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:10 year:2009 number:1 day:23 month:09 https://dx.doi.org/10.1186/1471-2350-10-100 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 10 2009 1 23 09
allfields_unstemmed	10.1186/1471-2350-10-100 doi (DE-627)SPR027485307 (SPR)1471-2350-10-100-e DE-627 ger DE-627 rakwb eng Waldrep, Manda L verfasserin aut Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Waldrep et al; licensee BioMed Central Ltd. 2009 Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213 Zhuang, Yingxin aut Schroeder, Harry W aut Enthalten in BMC medical genetics London : BioMed Central, 2000 10(2009), 1 vom: 23. Sept. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:10 year:2009 number:1 day:23 month:09 https://dx.doi.org/10.1186/1471-2350-10-100 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 10 2009 1 23 09
allfieldsGer	10.1186/1471-2350-10-100 doi (DE-627)SPR027485307 (SPR)1471-2350-10-100-e DE-627 ger DE-627 rakwb eng Waldrep, Manda L verfasserin aut Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Waldrep et al; licensee BioMed Central Ltd. 2009 Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213 Zhuang, Yingxin aut Schroeder, Harry W aut Enthalten in BMC medical genetics London : BioMed Central, 2000 10(2009), 1 vom: 23. Sept. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:10 year:2009 number:1 day:23 month:09 https://dx.doi.org/10.1186/1471-2350-10-100 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 10 2009 1 23 09
allfieldsSound	10.1186/1471-2350-10-100 doi (DE-627)SPR027485307 (SPR)1471-2350-10-100-e DE-627 ger DE-627 rakwb eng Waldrep, Manda L verfasserin aut Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Waldrep et al; licensee BioMed Central Ltd. 2009 Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213 Zhuang, Yingxin aut Schroeder, Harry W aut Enthalten in BMC medical genetics London : BioMed Central, 2000 10(2009), 1 vom: 23. Sept. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:10 year:2009 number:1 day:23 month:09 https://dx.doi.org/10.1186/1471-2350-10-100 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 10 2009 1 23 09
language	English
source	Enthalten in BMC medical genetics 10(2009), 1 vom: 23. Sept. volume:10 year:2009 number:1 day:23 month:09
sourceStr	Enthalten in BMC medical genetics 10(2009), 1 vom: 23. Sept. volume:10 year:2009 number:1 day:23 month:09
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Major Histocompatibility Complex Human Leukocyte Antigen Major Histocompatibility Complex Class Susceptibility Allele Major Histocompatibility Complex Allele
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Waldrep, Manda L @@aut@@ Zhuang, Yingxin @@aut@@ Schroeder, Harry W @@aut@@
publishDateDaySort_date	2009-09-23T00:00:00Z
hierarchy_top_id	326643788
id	SPR027485307
language_de	englisch
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Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. 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author	Waldrep, Manda L
spellingShingle	Waldrep, Manda L misc Major Histocompatibility Complex misc Human Leukocyte Antigen misc Major Histocompatibility Complex Class misc Susceptibility Allele misc Major Histocompatibility Complex Allele Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8
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topic_title	Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8 Major Histocompatibility Complex (dpeaa)DE-He213 Human Leukocyte Antigen (dpeaa)DE-He213 Major Histocompatibility Complex Class (dpeaa)DE-He213 Susceptibility Allele (dpeaa)DE-He213 Major Histocompatibility Complex Allele (dpeaa)DE-He213
topic	misc Major Histocompatibility Complex misc Human Leukocyte Antigen misc Major Histocompatibility Complex Class misc Susceptibility Allele misc Major Histocompatibility Complex Allele
topic_unstemmed	misc Major Histocompatibility Complex misc Human Leukocyte Antigen misc Major Histocompatibility Complex Class misc Susceptibility Allele misc Major Histocompatibility Complex Allele
topic_browse	misc Major Histocompatibility Complex misc Human Leukocyte Antigen misc Major Histocompatibility Complex Class misc Susceptibility Allele misc Major Histocompatibility Complex Allele
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title	Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8
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title_full	Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8
author_sort	Waldrep, Manda L
journal	BMC medical genetics
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author_browse	Waldrep, Manda L Zhuang, Yingxin Schroeder, Harry W
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author-letter	Waldrep, Manda L
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title_sort	analysis of taci mutations in cvid & respi patients who have inherited hla b44 or hlab8
title_auth	Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8
abstract	Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 © Waldrep et al; licensee BioMed Central Ltd. 2009
abstractGer	Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 © Waldrep et al; licensee BioMed Central Ltd. 2009
abstract_unstemmed	Background Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA DQ2, DR7, DR3(17), B8, and/or B44. Of these, HLAB44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency. Methods We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLAB44. To evaluate for mutations in the gene for TACI, we PCR amplified and sequenced TACI exons 3 and 4 from these patients. Results Of the 76 patients, eleven proved heterozygous for a previously reported, silent T->G polymorphism [rs35062843] at proline 97 in exon 3. However, none of the 13 RESPI patients and only one of the 63 CVID patients inherited a TACI allele previously associated with CVID. This patient was heterozygous for the TACI A181E allele (exon 4). She did not carry DQ2, DR7, DR3(17), B8, or B44. Conclusion These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles. Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 © Waldrep et al; licensee BioMed Central Ltd. 2009
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title_short	Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8
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Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8

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Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8