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Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

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Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. / Esmaeilzadeh, Hossein; Bemanian, Mohammad Hasan; Nabavi, Mohammad; Arshi, Saba; Fallahpour, Morteza; Fuchs, Ilka; Zur Stadt, Udo; Warnatz, Klaus; Ammann, Sandra; Ehl, Stephan; Lehmberg, Kai; Rezaei, Nima.

In: J CLIN IMMUNOL, Vol. 35, No. 1, 01.2015, p. 22-25.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Esmaeilzadeh, H, Bemanian, MH, Nabavi, M, Arshi, S, Fallahpour, M, Fuchs, I, Zur Stadt, U, Warnatz, K, Ammann, S, Ehl, S, Lehmberg, K & Rezaei, N 2015, 'Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia', J CLIN IMMUNOL, vol. 35, no. 1, pp. 22-25. https://doi.org/10.1007/s10875-014-0119-z

APA

Esmaeilzadeh, H., Bemanian, M. H., Nabavi, M., Arshi, S., Fallahpour, M., Fuchs, I., Zur Stadt, U., Warnatz, K., Ammann, S., Ehl, S., Lehmberg, K., & Rezaei, N. (2015). Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. J CLIN IMMUNOL, 35(1), 22-25. https://doi.org/10.1007/s10875-014-0119-z

Vancouver

Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I et al. Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. J CLIN IMMUNOL. 2015 Jan;35(1):22-25. https://doi.org/10.1007/s10875-014-0119-z

Bibtex

@article{bfc0be9e1479450786bff5a72a468f64,
title = "Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia",
abstract = "Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.",
author = "Hossein Esmaeilzadeh and Bemanian, {Mohammad Hasan} and Mohammad Nabavi and Saba Arshi and Morteza Fallahpour and Ilka Fuchs and {Zur Stadt}, Udo and Klaus Warnatz and Sandra Ammann and Stephan Ehl and Kai Lehmberg and Nima Rezaei",
year = "2015",
month = jan,
doi = "10.1007/s10875-014-0119-z",
language = "English",
volume = "35",
pages = "22--25",
journal = "J CLIN IMMUNOL",
issn = "0271-9142",
publisher = "Springer New York",
number = "1",

}

RIS

TY - JOUR

T1 - Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

AU - Esmaeilzadeh, Hossein

AU - Bemanian, Mohammad Hasan

AU - Nabavi, Mohammad

AU - Arshi, Saba

AU - Fallahpour, Morteza

AU - Fuchs, Ilka

AU - Zur Stadt, Udo

AU - Warnatz, Klaus

AU - Ammann, Sandra

AU - Ehl, Stephan

AU - Lehmberg, Kai

AU - Rezaei, Nima

PY - 2015/1

Y1 - 2015/1

N2 - Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.

AB - Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.

U2 - 10.1007/s10875-014-0119-z

DO - 10.1007/s10875-014-0119-z

M3 - SCORING: Journal article

C2 - 25491289

VL - 35

SP - 22

EP - 25

JO - J CLIN IMMUNOL

JF - J CLIN IMMUNOL

SN - 0271-9142

IS - 1

ER -