Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II

Maurits Damoiseaux; Jan Damoiseaux; Ingrid Pico-Knijnenburg; Mirjam van der Burg; Robbert Bredius; Gijs van Well

doi:https://doi.org/10.1016/j.clim.2022.108932

Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II

Maurits Damoiseaux, Jan Damoiseaux, Ingrid Pico-Knijnenburg, Mirjam van der Burg, Robbert Bredius, Gijs van Well

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

2 Citations (Scopus)

Abstract

A patient presented severe combined immunodeficiency (SCID)-like symptoms. The presence of a substantial number of CD4⁺ T-cells in the peripheral blood was not explained by maternal engraftment. Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MHC class II resulting in bare lymphocyte syndrome (BLS) type II. The initial unawareness of complete absence of MHC class II expression and normal T-cell receptor excision circles (TREC)-levels delayed the final diagnosis. After identification of the genetic defect the patient was scheduled for hematopoietic stem cell transplantation (HSCT). Here, we present and discuss the diagnostic and therapeutic approach of a novel case of BLS type II in relation to T-cell development.

Original language	English
Article number	108932
Journal	Clinical Immunology
Volume	235
DOIs	https://doi.org/10.1016/j.clim.2022.108932
Publication status	Published - Feb 2022
Externally published	Yes

Keywords

Diagnosis
MHC class II deficiency
Primary immunodeficiency

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https://doi.org/10.1016/j.clim.2022.108932

Cite this

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title = "Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II",

abstract = "A patient presented severe combined immunodeficiency (SCID)-like symptoms. The presence of a substantial number of CD4+ T-cells in the peripheral blood was not explained by maternal engraftment. Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MHC class II resulting in bare lymphocyte syndrome (BLS) type II. The initial unawareness of complete absence of MHC class II expression and normal T-cell receptor excision circles (TREC)-levels delayed the final diagnosis. After identification of the genetic defect the patient was scheduled for hematopoietic stem cell transplantation (HSCT). Here, we present and discuss the diagnostic and therapeutic approach of a novel case of BLS type II in relation to T-cell development.",

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AU - Damoiseaux, Maurits

AU - Damoiseaux, Jan

AU - Pico-Knijnenburg, Ingrid

AU - van der Burg, Mirjam

AU - Bredius, Robbert

AU - van Well, Gijs

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N2 - A patient presented severe combined immunodeficiency (SCID)-like symptoms. The presence of a substantial number of CD4+ T-cells in the peripheral blood was not explained by maternal engraftment. Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MHC class II resulting in bare lymphocyte syndrome (BLS) type II. The initial unawareness of complete absence of MHC class II expression and normal T-cell receptor excision circles (TREC)-levels delayed the final diagnosis. After identification of the genetic defect the patient was scheduled for hematopoietic stem cell transplantation (HSCT). Here, we present and discuss the diagnostic and therapeutic approach of a novel case of BLS type II in relation to T-cell development.

AB - A patient presented severe combined immunodeficiency (SCID)-like symptoms. The presence of a substantial number of CD4+ T-cells in the peripheral blood was not explained by maternal engraftment. Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MHC class II resulting in bare lymphocyte syndrome (BLS) type II. The initial unawareness of complete absence of MHC class II expression and normal T-cell receptor excision circles (TREC)-levels delayed the final diagnosis. After identification of the genetic defect the patient was scheduled for hematopoietic stem cell transplantation (HSCT). Here, we present and discuss the diagnostic and therapeutic approach of a novel case of BLS type II in relation to T-cell development.

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Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II

Abstract

Keywords

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