Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency

Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency Publisher Pubmed

Ghosh S¹ ; Bal SK^{2, 3, 4} ; Edwards ESJ^{5, 6} ; Pillay B^{5, 6} ; Heredia RJ^{2, 3, 4} ; Cipe FE⁷ ; Rao G⁵ ; Salzer E^{2, 3, 4, 8} ; Zoghi S^{2, 3, 4, 9} ; Abolhassani H^{9, 10} ; Momen T¹¹ ; Gostick E¹² ; Price DA^{12, 13} ; Zhang Y^{14, 15} Show All Authors

Ghosh S¹
Bal SK^{2, 3, 4}
Edwards ESJ^{5, 6}
Pillay B^{5, 6}
Heredia RJ^{2, 3, 4}
Cipe FE⁷
Rao G⁵
Salzer E^{2, 3, 4, 8}
Zoghi S^{2, 3, 4, 9}
Abolhassani H^{9, 10}
Momen T¹¹
Gostick E¹²
Price DA^{12, 13}
Zhang Y^{14, 15}
Oler AJ¹⁵
Gonzagajauregui C¹⁶
Erman B^{17, 18}
Metin A¹⁹
Ilhan I²⁰
Haskologlu S²¹
Islamoglu C²¹
Baskin K²¹
Ceylaner S²²
Yilmaz E^{23, 24}
Unal E^{23, 24}
Karakukcu M^{23, 24}
Berghuis D²⁵
Cole T²⁶
Gupta AK²⁷
Hauck F²⁸
Kogler H⁸
Hoepelman AIM²⁹
Baris S³⁰
Karakocaydiner E³⁰
Ozen A^{30, 31, 32}
Kager L⁸
Holzinger D³³
Paulussen M³⁴
Kruger R³⁵
Meisel R¹
Oommen PT¹
Morris E³⁶
Neven B^{37, 38}
Worth A³⁹
Van Montfrans J⁴⁰
Fraaij PLA^{41, 42}
Choo S²⁶
Dogu F²¹
Graham Davies E³⁹
Burns S^{36, 43}
Duckers G⁴⁴
Becker RP⁴⁴
Von Bernuth H^{35, 45, 46}
Latour S⁴⁷
Faraci M⁴⁸
Gattorno M⁴⁹
Su HC^{14, 15}
Panhammarstrom Q⁵⁰
Hammarstrom L^{10, 51}
Lenardo MJ^{15, 52}
Ma CS^{5, 6}
Niehues T⁴⁴
Aghamohammadi A^{9, 53}
Rezaei N^{9, 53}
Ikinciogullari A²¹
Tangye SG^{5, 6}
Lankester AC²⁵
Boztug K^{2, 3, 4, 8}

Source: Blood Published:2020

Abstract

to lymphoma.; Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity (IEIs) characterized predominantly by Epstein-Barr virus (EBV)-associated immune dysregulation, such as chronic viremia, severe infectious mononucleosis, hemophagocytic lymphohistiocytosis (HLH), lymphoproliferation, and malignancy. A comprehensive understanding of the natural history, immune characteristics, and transplant outcomes has remained elusive. Here, in a multi-institutional global collaboration, we collected the clinical information of 49 patients from 29 families (CD27, n 5 33; CD70, n 5 16), including 24 previously unreported individuals and identified a total of 16 distinct mutations in CD27, and 8 in CD70, respectively. The majority of patients (90%) were EBV1 at diagnosis, but only ∼30% presented with infectious mononucleosis. Lymphoproliferation and lymphoma were the main clinical manifestations (70% and 43%, respectively), and 9 of the CD27-deficient patients developed HLH. Twenty-one patients (43%) developed autoinflammatory features including uveitis, arthritis, and periodic fever. Detailed immunological characterization revealed aberrant generation of memory B and T cells, including a paucity of EBV-specific T cells, and impaired effector function of CD81 T cells, thereby providing mechanistic insight into cellular defects underpinning the clinical features of disrupted CD27/CD70 signaling. Nineteen patients underwent allogeneic hematopoietic stem cell transplantation (HSCT) prior to adulthood predominantly because of lymphoma, with 95% survival without disease recurrence. Our data highlight the marked predisposition to lymphoma of both CD27- and CD70-deficient patients. The excellent outcome after HSCT supports the timely implementation of this treatment modality particularly in patients presenting with malignant transformation to lymphoma. © 2020 American Society of Hematology. All rights reserved.

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Nima Rezaei (9)

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Style	Citing Format
MLA	Ghosh S, et al.. "Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency." Blood, vol. 136, no. 23, 2020, pp. 2638-2655.
APA	Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzagajauregui C, Erman B, Metin A, Ilhan I, ... Boztug K (2020). Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency. Blood, 136(23), 2638-2655.
Chicago	Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, Rao G, et al.. "Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency." Blood 136, no. 23 (2020): 2638-2655.
Harvard	Ghosh S et al. (2020) 'Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency', Blood, 136(23), pp. 2638-2655.
Vancouver	Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, et al.. Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency. Blood. 2020;136(23):2638-2655.
BibTex	@article{ author = {Ghosh S and Bal SK and Edwards ESJ and Pillay B and Heredia RJ and Cipe FE and Rao G and Salzer E and Zoghi S and Abolhassani H and Momen T and Gostick E and Price DA and Zhang Y and Oler AJ and Gonzagajauregui C and Erman B and Metin A and Ilhan I and Haskologlu S and Islamoglu C and Baskin K and Ceylaner S and Yilmaz E and Unal E and Karakukcu M and Berghuis D and Cole T and Gupta AK and Hauck F and Kogler H and Hoepelman AIM and Baris S and Karakocaydiner E and Ozen A and Kager L and Holzinger D and Paulussen M and Kruger R and Meisel R and Oommen PT and Morris E and Neven B and Worth A and Van Montfrans J and Fraaij PLA and Choo S and Dogu F and Graham Davies E and Burns S and Duckers G and Becker RP and Von Bernuth H and Latour S and Faraci M and Gattorno M and Su HC and Panhammarstrom Q and Hammarstrom L and Lenardo MJ and Ma CS and Niehues T and Aghamohammadi A and Rezaei N and Ikinciogullari A and Tangye SG and Lankester AC and Boztug K}, title = {Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency}, journal = {Blood}, volume = {136}, number = {23}, pages = {2638-2655}, year = {2020} }
RIS	TY - JOUR AU - Ghosh S AU - Bal SK AU - Edwards ESJ AU - Pillay B AU - Heredia RJ AU - Cipe FE AU - Rao G AU - Salzer E AU - Zoghi S AU - Abolhassani H AU - Momen T AU - Gostick E AU - Price DA AU - Zhang Y AU - Oler AJ AU - Gonzagajauregui C AU - Erman B AU - Metin A AU - Ilhan I AU - Haskologlu S AU - Islamoglu C AU - Baskin K AU - Ceylaner S AU - Yilmaz E AU - Unal E AU - Karakukcu M AU - Berghuis D AU - Cole T AU - Gupta AK AU - Hauck F AU - Kogler H AU - Hoepelman AIM AU - Baris S AU - Karakocaydiner E AU - Ozen A AU - Kager L AU - Holzinger D AU - Paulussen M AU - Kruger R AU - Meisel R AU - Oommen PT AU - Morris E AU - Neven B AU - Worth A AU - Van Montfrans J AU - Fraaij PLA AU - Choo S AU - Dogu F AU - Graham Davies E AU - Burns S AU - Duckers G AU - Becker RP AU - Von Bernuth H AU - Latour S AU - Faraci M AU - Gattorno M AU - Su HC AU - Panhammarstrom Q AU - Hammarstrom L AU - Lenardo MJ AU - Ma CS AU - Niehues T AU - Aghamohammadi A AU - Rezaei N AU - Ikinciogullari A AU - Tangye SG AU - Lankester AC AU - Boztug K TI - Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency JO - Blood VL - 136 IS - 23 SP - 2638 EP - 2655 PY - 2020 ER -

Style

Citing Format

MLA

Ghosh S, et al.. "Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency." Blood, vol. 136, no. 23, 2020, pp. 2638-2655.

APA

Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzagajauregui C, Erman B, Metin A, Ilhan I, ... Boztug K (2020). Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency. Blood, 136(23), 2638-2655.

Chicago

Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, Rao G, et al.. "Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency." Blood 136, no. 23 (2020): 2638-2655.

Harvard

Ghosh S et al. (2020) 'Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency', Blood, 136(23), pp. 2638-2655.

Vancouver

Ghosh S, Bal SK, Edwards ESJ, Pillay B, Heredia RJ, Cipe FE, et al.. Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency. Blood. 2020;136(23):2638-2655.

BibTex

@article{ author = {Ghosh S and Bal SK and Edwards ESJ and Pillay B and Heredia RJ and Cipe FE and Rao G and Salzer E and Zoghi S and Abolhassani H and Momen T and Gostick E and Price DA and Zhang Y and Oler AJ and Gonzagajauregui C and Erman B and Metin A and Ilhan I and Haskologlu S and Islamoglu C and Baskin K and Ceylaner S and Yilmaz E and Unal E and Karakukcu M and Berghuis D and Cole T and Gupta AK and Hauck F and Kogler H and Hoepelman AIM and Baris S and Karakocaydiner E and Ozen A and Kager L and Holzinger D and Paulussen M and Kruger R and Meisel R and Oommen PT and Morris E and Neven B and Worth A and Van Montfrans J and Fraaij PLA and Choo S and Dogu F and Graham Davies E and Burns S and Duckers G and Becker RP and Von Bernuth H and Latour S and Faraci M and Gattorno M and Su HC and Panhammarstrom Q and Hammarstrom L and Lenardo MJ and Ma CS and Niehues T and Aghamohammadi A and Rezaei N and Ikinciogullari A and Tangye SG and Lankester AC and Boztug K}, title = {Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency}, journal = {Blood}, volume = {136}, number = {23}, pages = {2638-2655}, year = {2020} }

RIS

TY - JOUR
AU - Ghosh S
AU - Bal SK
AU - Edwards ESJ
AU - Pillay B
AU - Heredia RJ
AU - Cipe FE
AU - Rao G
AU - Salzer E
AU - Zoghi S
AU - Abolhassani H
AU - Momen T
AU - Gostick E
AU - Price DA
AU - Zhang Y
AU - Oler AJ
AU - Gonzagajauregui C
AU - Erman B
AU - Metin A
AU - Ilhan I
AU - Haskologlu S
AU - Islamoglu C
AU - Baskin K
AU - Ceylaner S
AU - Yilmaz E
AU - Unal E
AU - Karakukcu M
AU - Berghuis D
AU - Cole T
AU - Gupta AK
AU - Hauck F
AU - Kogler H
AU - Hoepelman AIM
AU - Baris S
AU - Karakocaydiner E
AU - Ozen A
AU - Kager L
AU - Holzinger D
AU - Paulussen M
AU - Kruger R
AU - Meisel R
AU - Oommen PT
AU - Morris E
AU - Neven B
AU - Worth A
AU - Van Montfrans J
AU - Fraaij PLA
AU - Choo S
AU - Dogu F
AU - Graham Davies E
AU - Burns S
AU - Duckers G
AU - Becker RP
AU - Von Bernuth H
AU - Latour S
AU - Faraci M
AU - Gattorno M
AU - Su HC
AU - Panhammarstrom Q
AU - Hammarstrom L
AU - Lenardo MJ
AU - Ma CS
AU - Niehues T
AU - Aghamohammadi A
AU - Rezaei N
AU - Ikinciogullari A
AU - Tangye SG
AU - Lankester AC
AU - Boztug K
TI - Extended Clinical and Immunological Phenotype and Transplant Outcome in Cd27 and Cd70 Deficiency
JO - Blood
VL - 136
IS - 23
SP - 2638
EP - 2655
PY - 2020
ER -

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