Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation

Maria Francisca Moraes-Fontes, Amy P. Hsu, Iris Caramalho, Catarina Martins, Ana Carolina Araujo, Filipa Lourenco, Anna V. Taulaigo, Ana Llado, Steven M. Holland, Gulbu Uzel

Research output: Contribution to journalArticle

5 Downloads (Pure)
Original languageEnglish
Pages (from-to)2066-2070
Number of pages5
JournalCLINICAL CASE REPORTS
Volume5
Issue number12
DOIs
Publication statusPublished - Dec 2017

Keywords

  • CTLA-4 mutation
  • Evans syndrome
  • hypogammaglobulinemia
  • sepsis

Cite this

Moraes-Fontes, Maria Francisca ; Hsu, Amy P. ; Caramalho, Iris ; Martins, Catarina ; Araujo, Ana Carolina ; Lourenco, Filipa ; Taulaigo, Anna V. ; Llado, Ana ; Holland, Steven M. ; Uzel, Gulbu. / Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation. In: CLINICAL CASE REPORTS. 2017 ; Vol. 5, No. 12. pp. 2066-2070.
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author = "Moraes-Fontes, {Maria Francisca} and Hsu, {Amy P.} and Iris Caramalho and Catarina Martins and Araujo, {Ana Carolina} and Filipa Lourenco and Taulaigo, {Anna V.} and Ana Llado and Holland, {Steven M.} and Gulbu Uzel",
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doi = "10.1002/ccr3.1257",
language = "English",
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Moraes-Fontes, MF, Hsu, AP, Caramalho, I, Martins, C, Araujo, AC, Lourenco, F, Taulaigo, AV, Llado, A, Holland, SM & Uzel, G 2017, 'Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation', CLINICAL CASE REPORTS, vol. 5, no. 12, pp. 2066-2070. https://doi.org/10.1002/ccr3.1257

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation. / Moraes-Fontes, Maria Francisca; Hsu, Amy P.; Caramalho, Iris; Martins, Catarina; Araujo, Ana Carolina; Lourenco, Filipa; Taulaigo, Anna V.; Llado, Ana; Holland, Steven M.; Uzel, Gulbu.

In: CLINICAL CASE REPORTS, Vol. 5, No. 12, 12.2017, p. 2066-2070.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation

AU - Moraes-Fontes, Maria Francisca

AU - Hsu, Amy P.

AU - Caramalho, Iris

AU - Martins, Catarina

AU - Araujo, Ana Carolina

AU - Lourenco, Filipa

AU - Taulaigo, Anna V.

AU - Llado, Ana

AU - Holland, Steven M.

AU - Uzel, Gulbu

PY - 2017/12

Y1 - 2017/12

KW - CTLA-4 mutation

KW - Evans syndrome

KW - hypogammaglobulinemia

KW - sepsis

U2 - 10.1002/ccr3.1257

DO - 10.1002/ccr3.1257

M3 - Article

VL - 5

SP - 2066

EP - 2070

JO - CLINICAL CASE REPORTS

JF - CLINICAL CASE REPORTS

SN - 2050-0904

IS - 12

ER -