Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

E. Mancebo, M.A. Moreno-Pelayo, A. Mencia, O. De La Calle-Martin, L.M. Allende, P. Sivadorai, Luba Kalaydjieva, J. Bertranpetit, E. Coto, S. Calleja-Antolin, J. Ruiz-Contreras, E. Paz-Artal

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Abstract

We describe the second case of CD8 immunodeficiency. It confirms the pathogenic effect of p.Gly111Ser, leading to complete deficit of CD8+ lymphocytes, although the clinical manifestations may vary in severity. Similarly to the first case reported, our patient is also from Spanish Gypsy origin and homozygous for the p.Gly111Ser mutation in CD8(x chain. The patient has suffered repeated respiratory infections from childhood but with conservation of her pulmonary parenchyma, on the contrary to the first patient, who died because of his respiratory injury. We developed an AluI-PCR-RFLP assay to screen a total of 1127 unrelated control individuals: 734 subjects of Gypsy ancestry from different sub-isolates and geographic locations in Europe, and 393 of Spanish (non-Gypsy) ethnicity. The results indicate that p.Gly111Ser is confined to the Spanish Gypsy population, where it occurs at a carrier rate of 0.4%. Analysis of microsatellite markers flanking the CD8A mutated gene revealed a shared polymorphic haplotype suggesting a common founder for p.Gly111Ser mutation that causes CD8 deficiency in the Spanish Gypsy population. CD8 immunodeficiency should be given diagnostic consideration in Spanish Gypsies with recurrent infections. Our findings may also have implications for these patients in terms of specific recommendations in vaccination and healthy habits and for genetic counseling of affected families. (c) 2007 Elsevier Ltd. All rights reserved.
Original languageEnglish
Pages (from-to)479-484
JournalMolecular Immunology
Volume45
Issue number2
DOIs
Publication statusPublished - 2008

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Roma
Mutation
Genes
Geographic Locations
Genetic Counseling
Respiratory Tract Infections
Restriction Fragment Length Polymorphisms
Microsatellite Repeats
Haplotypes
Population
Habits
Vaccination
Lymphocytes
Polymerase Chain Reaction
Lung
Wounds and Injuries
Infection

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Mancebo, E., Moreno-Pelayo, M. A., Mencia, A., De La Calle-Martin, O., Allende, L. M., Sivadorai, P., ... Paz-Artal, E. (2008). Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. Molecular Immunology, 45(2), 479-484. https://doi.org/10.1016/j.molimm.2007.05.022
Mancebo, E. ; Moreno-Pelayo, M.A. ; Mencia, A. ; De La Calle-Martin, O. ; Allende, L.M. ; Sivadorai, P. ; Kalaydjieva, Luba ; Bertranpetit, J. ; Coto, E. ; Calleja-Antolin, S. ; Ruiz-Contreras, J. ; Paz-Artal, E. / Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. In: Molecular Immunology. 2008 ; Vol. 45, No. 2. pp. 479-484.
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title = "Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies",
abstract = "We describe the second case of CD8 immunodeficiency. It confirms the pathogenic effect of p.Gly111Ser, leading to complete deficit of CD8+ lymphocytes, although the clinical manifestations may vary in severity. Similarly to the first case reported, our patient is also from Spanish Gypsy origin and homozygous for the p.Gly111Ser mutation in CD8(x chain. The patient has suffered repeated respiratory infections from childhood but with conservation of her pulmonary parenchyma, on the contrary to the first patient, who died because of his respiratory injury. We developed an AluI-PCR-RFLP assay to screen a total of 1127 unrelated control individuals: 734 subjects of Gypsy ancestry from different sub-isolates and geographic locations in Europe, and 393 of Spanish (non-Gypsy) ethnicity. The results indicate that p.Gly111Ser is confined to the Spanish Gypsy population, where it occurs at a carrier rate of 0.4{\%}. Analysis of microsatellite markers flanking the CD8A mutated gene revealed a shared polymorphic haplotype suggesting a common founder for p.Gly111Ser mutation that causes CD8 deficiency in the Spanish Gypsy population. CD8 immunodeficiency should be given diagnostic consideration in Spanish Gypsies with recurrent infections. Our findings may also have implications for these patients in terms of specific recommendations in vaccination and healthy habits and for genetic counseling of affected families. (c) 2007 Elsevier Ltd. All rights reserved.",
author = "E. Mancebo and M.A. Moreno-Pelayo and A. Mencia and {De La Calle-Martin}, O. and L.M. Allende and P. Sivadorai and Luba Kalaydjieva and J. Bertranpetit and E. Coto and S. Calleja-Antolin and J. Ruiz-Contreras and E. Paz-Artal",
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Mancebo, E, Moreno-Pelayo, MA, Mencia, A, De La Calle-Martin, O, Allende, LM, Sivadorai, P, Kalaydjieva, L, Bertranpetit, J, Coto, E, Calleja-Antolin, S, Ruiz-Contreras, J & Paz-Artal, E 2008, 'Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies' Molecular Immunology, vol. 45, no. 2, pp. 479-484. https://doi.org/10.1016/j.molimm.2007.05.022

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. / Mancebo, E.; Moreno-Pelayo, M.A.; Mencia, A.; De La Calle-Martin, O.; Allende, L.M.; Sivadorai, P.; Kalaydjieva, Luba; Bertranpetit, J.; Coto, E.; Calleja-Antolin, S.; Ruiz-Contreras, J.; Paz-Artal, E.

In: Molecular Immunology, Vol. 45, No. 2, 2008, p. 479-484.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

AU - Mancebo, E.

AU - Moreno-Pelayo, M.A.

AU - Mencia, A.

AU - De La Calle-Martin, O.

AU - Allende, L.M.

AU - Sivadorai, P.

AU - Kalaydjieva, Luba

AU - Bertranpetit, J.

AU - Coto, E.

AU - Calleja-Antolin, S.

AU - Ruiz-Contreras, J.

AU - Paz-Artal, E.

PY - 2008

Y1 - 2008

N2 - We describe the second case of CD8 immunodeficiency. It confirms the pathogenic effect of p.Gly111Ser, leading to complete deficit of CD8+ lymphocytes, although the clinical manifestations may vary in severity. Similarly to the first case reported, our patient is also from Spanish Gypsy origin and homozygous for the p.Gly111Ser mutation in CD8(x chain. The patient has suffered repeated respiratory infections from childhood but with conservation of her pulmonary parenchyma, on the contrary to the first patient, who died because of his respiratory injury. We developed an AluI-PCR-RFLP assay to screen a total of 1127 unrelated control individuals: 734 subjects of Gypsy ancestry from different sub-isolates and geographic locations in Europe, and 393 of Spanish (non-Gypsy) ethnicity. The results indicate that p.Gly111Ser is confined to the Spanish Gypsy population, where it occurs at a carrier rate of 0.4%. Analysis of microsatellite markers flanking the CD8A mutated gene revealed a shared polymorphic haplotype suggesting a common founder for p.Gly111Ser mutation that causes CD8 deficiency in the Spanish Gypsy population. CD8 immunodeficiency should be given diagnostic consideration in Spanish Gypsies with recurrent infections. Our findings may also have implications for these patients in terms of specific recommendations in vaccination and healthy habits and for genetic counseling of affected families. (c) 2007 Elsevier Ltd. All rights reserved.

AB - We describe the second case of CD8 immunodeficiency. It confirms the pathogenic effect of p.Gly111Ser, leading to complete deficit of CD8+ lymphocytes, although the clinical manifestations may vary in severity. Similarly to the first case reported, our patient is also from Spanish Gypsy origin and homozygous for the p.Gly111Ser mutation in CD8(x chain. The patient has suffered repeated respiratory infections from childhood but with conservation of her pulmonary parenchyma, on the contrary to the first patient, who died because of his respiratory injury. We developed an AluI-PCR-RFLP assay to screen a total of 1127 unrelated control individuals: 734 subjects of Gypsy ancestry from different sub-isolates and geographic locations in Europe, and 393 of Spanish (non-Gypsy) ethnicity. The results indicate that p.Gly111Ser is confined to the Spanish Gypsy population, where it occurs at a carrier rate of 0.4%. Analysis of microsatellite markers flanking the CD8A mutated gene revealed a shared polymorphic haplotype suggesting a common founder for p.Gly111Ser mutation that causes CD8 deficiency in the Spanish Gypsy population. CD8 immunodeficiency should be given diagnostic consideration in Spanish Gypsies with recurrent infections. Our findings may also have implications for these patients in terms of specific recommendations in vaccination and healthy habits and for genetic counseling of affected families. (c) 2007 Elsevier Ltd. All rights reserved.

U2 - 10.1016/j.molimm.2007.05.022

DO - 10.1016/j.molimm.2007.05.022

M3 - Article

VL - 45

SP - 479

EP - 484

JO - Molecular Immunology

JF - Molecular Immunology

SN - 0161-5890

IS - 2

ER -

Mancebo E, Moreno-Pelayo MA, Mencia A, De La Calle-Martin O, Allende LM, Sivadorai P et al. Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. Molecular Immunology. 2008;45(2):479-484. https://doi.org/10.1016/j.molimm.2007.05.022