Genetic linkage of hyper-IgE syndrome to chromosome 4

Bodo Grimbacher; Alejandro A. Schäffer; Steven M. Holland; Joie Davis; John I. Gallin; Harry L. Malech; T. Prescott Atkinson; Bernd H. Belohradsky; Rebecca H. Buckley; Fausto Cossu; Teresa Español; Ben Zion Garty; Nuria Matamoros; Laurie A. Myers; Robert P. Nelson; Hans D. Ochs; Eleonore D. Renner; Nele Wellinghausen; Jennifer M. Puck

doi:10.1086/302547

Genetic linkage of hyper-IgE syndrome to chromosome 4

Bodo Grimbacher, Alejandro A. Schäffer, Steven M. Holland, Joie Davis, John I. Gallin, Harry L. Malech, T. Prescott Atkinson, Bernd H. Belohradsky, Rebecca H. Buckley, Fausto Cossu, Teresa Español, Ben Zion Garty, Nuria Matamoros, Laurie A. Myers, Robert P. Nelson, Hans D. Ochs, Eleonore D. Renner, Nele Wellinghausen, Jennifer M. Puck

Research output: Contribution to journal › Article › peer-review

348 Scopus citations

Abstract

The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.

Original language	English
Pages (from-to)	735-744
Number of pages	10
Journal	American Journal of Human Genetics
Volume	65
Issue number	3
DOIs	https://doi.org/10.1086/302547
State	Published - 1999
Externally published	Yes

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Grimbacher, B., Schäffer, A. A., Holland, S. M., Davis, J., Gallin, J. I., Malech, H. L., Atkinson, T. P., Belohradsky, B. H., Buckley, R. H., Cossu, F., Español, T., Garty, B. Z., Matamoros, N., Myers, L. A., Nelson, R. P., Ochs, H. D., Renner, E. D., Wellinghausen, N., & Puck, J. M. (1999). Genetic linkage of hyper-IgE syndrome to chromosome 4. American Journal of Human Genetics, 65(3), 735-744. https://doi.org/10.1086/302547

@article{90c8c7bc0fb24a7a83992e0084004e7f,

title = "Genetic linkage of hyper-IgE syndrome to chromosome 4",

abstract = "The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.",

author = "Bodo Grimbacher and Sch{\"a}ffer, {Alejandro A.} and Holland, {Steven M.} and Joie Davis and Gallin, {John I.} and Malech, {Harry L.} and Atkinson, {T. Prescott} and Belohradsky, {Bernd H.} and Buckley, {Rebecca H.} and Fausto Cossu and Teresa Espa{\~n}ol and Garty, {Ben Zion} and Nuria Matamoros and Myers, {Laurie A.} and Nelson, {Robert P.} and Ochs, {Hans D.} and Renner, {Eleonore D.} and Nele Wellinghausen and Puck, {Jennifer M.}",

note = "Funding Information: The authors would like to thank Judi Miller and Roxanne Fischer for handling family data and samples, Amy P. Hsu for her help in establishing the genotyping procedure, and all of the families who participated in this study. B.G. was supported by the Deutsche Forschungsgemeinschaft grant GR1617/1-1 and an Immune Deficiency Foundation Research Fellowship Award (1998); H.D.O. was supported in part by the University of Washington Clinical Research Center (grant RR-37), NIH grant HD17427, the Immune Deficiency Foundation, and the Jeffrey Modell Foundation. ",

year = "1999",

doi = "10.1086/302547",

language = "English",

volume = "65",

pages = "735--744",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

Grimbacher, B, Schäffer, AA, Holland, SM, Davis, J, Gallin, JI, Malech, HL, Atkinson, TP, Belohradsky, BH, Buckley, RH, Cossu, F, Español, T, Garty, BZ, Matamoros, N, Myers, LA, Nelson, RP, Ochs, HD, Renner, ED, Wellinghausen, N & Puck, JM 1999, 'Genetic linkage of hyper-IgE syndrome to chromosome 4', American Journal of Human Genetics, vol. 65, no. 3, pp. 735-744. https://doi.org/10.1086/302547

TY - JOUR

T1 - Genetic linkage of hyper-IgE syndrome to chromosome 4

AU - Grimbacher, Bodo

AU - Schäffer, Alejandro A.

AU - Holland, Steven M.

AU - Davis, Joie

AU - Gallin, John I.

AU - Malech, Harry L.

AU - Atkinson, T. Prescott

AU - Belohradsky, Bernd H.

AU - Buckley, Rebecca H.

AU - Cossu, Fausto

AU - Español, Teresa

AU - Garty, Ben Zion

AU - Matamoros, Nuria

AU - Myers, Laurie A.

AU - Nelson, Robert P.

AU - Ochs, Hans D.

AU - Renner, Eleonore D.

AU - Wellinghausen, Nele

AU - Puck, Jennifer M.

N1 - Funding Information: The authors would like to thank Judi Miller and Roxanne Fischer for handling family data and samples, Amy P. Hsu for her help in establishing the genotyping procedure, and all of the families who participated in this study. B.G. was supported by the Deutsche Forschungsgemeinschaft grant GR1617/1-1 and an Immune Deficiency Foundation Research Fellowship Award (1998); H.D.O. was supported in part by the University of Washington Clinical Research Center (grant RR-37), NIH grant HD17427, the Immune Deficiency Foundation, and the Jeffrey Modell Foundation.

PY - 1999

Y1 - 1999

N2 - The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.

AB - The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.

UR - http://www.scopus.com/inward/record.url?scp=0033362156&partnerID=8YFLogxK

U2 - 10.1086/302547

DO - 10.1086/302547

M3 - Article

C2 - 10441580

AN - SCOPUS:0033362156

SN - 0002-9297

VL - 65

SP - 735

EP - 744

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

Genetic linkage of hyper-IgE syndrome to chromosome 4

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