New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

Brigitte W M Willemse; Saskia N van der Crabben; Wilhelmina S Kerstjens-Frederikse; Wim Timens; Joris M van Montfrans; Caroline A Lindemans; Jaap Jan Boelens; Marije P Hennus; Gijs van Haaften

doi:10.1186/s13023-021-01770-z

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

Brigitte W M Willemse, Saskia N van der Crabben, Wilhelmina S Kerstjens-Frederikse, Wim Timens, Joris M van Montfrans, Caroline A Lindemans, Jaap Jan Boelens, Marije P Hennus, Gijs van Haaften

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

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Abstract

We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

Original language	English
Article number	137
Pages (from-to)	1-7
Journal	Orphanet Journal of Rare Diseases
Volume	16
Issue number	1
DOIs	https://doi.org/10.1186/s13023-021-01770-z
Publication status	Published - 19 Mar 2021

Keywords

Hematopoietic stem-cell transplantation
Immunodeficiency
NSMCE3 gene
Pediatric acute respiratory distress syndrome (PARDS)
Severe respiratory failure

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Willemse, B. W. M., van der Crabben, S. N., Kerstjens-Frederikse, W. S., Timens, W., van Montfrans, J. M., Lindemans, C. A., Boelens, J. J., Hennus, M. P., & van Haaften, G. (2021). New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS). Orphanet Journal of Rare Diseases, 16(1), 1-7. Article 137. https://doi.org/10.1186/s13023-021-01770-z

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abstract = "We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.",

keywords = "Hematopoietic stem-cell transplantation, Immunodeficiency, NSMCE3 gene, Pediatric acute respiratory distress syndrome (PARDS), Severe respiratory failure",

author = "Willemse, {Brigitte W M} and {van der Crabben}, {Saskia N} and Kerstjens-Frederikse, {Wilhelmina S} and Wim Timens and {van Montfrans}, {Joris M} and Lindemans, {Caroline A} and Boelens, {Jaap Jan} and Hennus, {Marije P} and {van Haaften}, Gijs",

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doi = "10.1186/s13023-021-01770-z",

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Willemse, BWM, van der Crabben, SN, Kerstjens-Frederikse, WS, Timens, W, van Montfrans, JM , Lindemans, CA, Boelens, JJ, Hennus, MP & van Haaften, G 2021, 'New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 137, pp. 1-7. https://doi.org/10.1186/s13023-021-01770-z

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS). / Willemse, Brigitte W M; van der Crabben, Saskia N; Kerstjens-Frederikse, Wilhelmina S et al.
In: Orphanet Journal of Rare Diseases, Vol. 16, No. 1, 137, 19.03.2021, p. 1-7.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

TY - JOUR

T1 - New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

AU - Willemse, Brigitte W M

AU - van der Crabben, Saskia N

AU - Kerstjens-Frederikse, Wilhelmina S

AU - Timens, Wim

AU - van Montfrans, Joris M

AU - Lindemans, Caroline A

AU - Boelens, Jaap Jan

AU - Hennus, Marije P

AU - van Haaften, Gijs

PY - 2021/3/19

Y1 - 2021/3/19

N2 - We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

AB - We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

KW - Hematopoietic stem-cell transplantation

KW - Immunodeficiency

KW - NSMCE3 gene

KW - Pediatric acute respiratory distress syndrome (PARDS)

KW - Severe respiratory failure

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U2 - 10.1186/s13023-021-01770-z

DO - 10.1186/s13023-021-01770-z

M3 - Comment/Letter to the editor

C2 - 33741030

SN - 1750-1172

VL - 16

SP - 1

EP - 7

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 137

ER -

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

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