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Successful Hematopo...
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
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- Tesi, Bianca (författare)
- Karolinska Institutet
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- Priftakis, Peter (författare)
- Karolinska University Hospital
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- Lindgren, Fredrik (författare)
- Karolinska University Hospital
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- Chiang, Samuel C C (författare)
- Karolinska University Hospital
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- Kartalis, Nikolaos (författare)
- Karolinska Institutet
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- Löfstedt, Alexandra (författare)
- Karolinska Institutet
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- Lörinc, Esther (författare)
- Lund University,Lunds universitet,Klinisk patologi, Malmö,Forskargrupper vid Lunds universitet,Clinical pathology, Malmö,Lund University Research Groups,Karolinska University Hospital,Skåne University Hospital
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- Henter, Jan Inge (författare)
- Karolinska Institutet
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- Winiarski, Jacek (författare)
- Karolinska Institutet
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- Bryceson, Yenan T. (författare)
- Karolinska Institutet
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- Meeths, Marie (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2016-05-04
- 2016
- Engelska 10 s.
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Ingår i: Journal of Clinical Immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 36:5, s. 480-489
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Purpose: Autosomal recessive mutations in LRBA, encoding for LPS-responsive beige-like anchor protein, were described in patients with a common variable immunodeficiency (CVID)-like disease characterized by hypogammaglobulinemia, autoimmune cytopenias, and enteropathy. Here, we detail the clinical, immunological, and genetic features of a patient with severe autoimmune manifestations. Methods: Whole exome sequencing was performed to establish a molecular diagnosis. Evaluation of lymphocyte subsets was performed for immunological characterization. Medical files were reviewed to collect clinical and immunological data. Results: A 7-year-old boy, born to consanguineous parents, presented with autoimmune hemolytic anemia, hepatosplenomegaly, autoimmune thyroiditis, and severe autoimmune gastrointestinal manifestations. Immunological investigations revealed low immunoglobulin levels and low numbers of B and NK cells. Treatment included immunoglobulin replacement and immunosuppressive therapy. Seven years after disease onset, the patient developed severe neurological symptoms resembling acute disseminated encephalomyelitis, prompting allogeneic hematopoietic stem cell transplantation (HSCT) with the HLA-identical mother as donor. Whole exome sequencing of the patient uncovered a homozygous 1 bp deletion in LRBA (c.7162delA:p.T2388Pfs*7). Importantly, during 2 years of follow-up post-HSCT, marked clinical improvement and recovery of immune function was observed. Conclusions: Our data suggest a beneficial effect of HSCT in patients with LRBA deficiency.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Nyckelord
- acute disseminated encephalomyelitis
- common variable immune deficiency
- enteropathy
- hematopoietic stem cell transplantation
- primary immunodeficiency
- whole exome sequencing
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Tesi, Bianca
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Priftakis, Peter
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Lindgren, Fredri ...
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Chiang, Samuel C ...
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Kartalis, Nikola ...
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Löfstedt, Alexan ...
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visa fler...
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Lörinc, Esther
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Henter, Jan Inge
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Winiarski, Jacek
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Bryceson, Yenan ...
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Meeths, Marie
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Hematologi
- Artiklar i publikationen
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Journal of Clini ...
- Av lärosätet
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Lunds universitet
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Karolinska Institutet