Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia

Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia Publisher Pubmed

Esmaeilzadeh H^{1, 2} ; Bemanian MH¹ ; Nabavi M¹ ; Arshi S¹ ; Fallahpour M¹ ; Fuchs I³ ; Zur Stadt U⁴ ; Warnatz K³ ; Ammann S³ ; Ehl S³ ; Lehmberg K⁵ ; Rezaei N⁶

Show Affiliations

1. Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
2. Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
3. Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany
4. Center for Diagnostic, University Medical Center Hamburg Eppendorf, Hamburg, Germany
5. Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
6. Molecular Immunology Research Center
7. and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
8. Research Center for Immunodeficiencies, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Clinical Immunology Published:2015

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. © 2014, Springer Science+Business Media New York.

2. Clinical, Immunological and Genetic Findings in Patients With Unc13d Deficiency (Fhl3): A Systematic Review, Pediatric Allergy and Immunology (2021)

3. Cellular and Molecular Mechanisms of Immune Dysregulation and Autoimmunity, Cellular Immunology (2016)

4. Nckap1l Defects Lead to a Novel Syndrome Combining Immunodeficiency, Lymphoproliferation, and Hyperinflammation, Journal of Experimental Medicine (2020)

5. Familial Hemophagocytic Lymphohistiocytosis Secondary to Unc13d Mutation: A Report of Two Cases, BMC Pediatrics (2022)

6. Immunodeficiency With Susceptibility to Lymphoma With Complex Genotype Affecting Energy Metabolism (Fbp1, Acad9) and Vesicle Trafficking (Rab27a), Frontiers in Immunology (2023)

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Style	Citing Format
MLA	Esmaeilzadeh H, et al.. "Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia." Journal of Clinical Immunology, vol. 35, no. 1, 2015, pp. 22-25.
APA	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. Journal of Clinical Immunology, 35(1), 22-25.
Chicago	Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I, Zur Stadt U, et al.. "Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia." Journal of Clinical Immunology 35, no. 1 (2015): 22-25.
Harvard	Esmaeilzadeh H et al. (2015) 'Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia', Journal of Clinical Immunology, 35(1), pp. 22-25.
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. Journal of Clinical Immunology. 2015;35(1):22-25.
BibTex	@article{ author = {Esmaeilzadeh H and Bemanian MH and Nabavi M and Arshi S and Fallahpour M and Fuchs I and Zur Stadt U and Warnatz K and Ammann S and Ehl S and Lehmberg K and Rezaei N}, title = {Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia}, journal = {Journal of Clinical Immunology}, volume = {35}, number = {1}, pages = {22-25}, year = {2015} }
RIS	TY - JOUR AU - Esmaeilzadeh H AU - Bemanian MH AU - Nabavi M AU - Arshi S AU - Fallahpour M AU - Fuchs I AU - Zur Stadt U AU - Warnatz K AU - Ammann S AU - Ehl S AU - Lehmberg K AU - Rezaei N TI - Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia JO - Journal of Clinical Immunology VL - 35 IS - 1 SP - 22 EP - 25 PY - 2015 ER -

Style

Citing Format

MLA

Esmaeilzadeh H, et al.. "Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia." Journal of Clinical Immunology, vol. 35, no. 1, 2015, pp. 22-25.

APA

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. Journal of Clinical Immunology, 35(1), 22-25.

Chicago

Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I, Zur Stadt U, et al.. "Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia." Journal of Clinical Immunology 35, no. 1 (2015): 22-25.

Harvard

Esmaeilzadeh H et al. (2015) 'Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia', Journal of Clinical Immunology, 35(1), pp. 22-25.

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. Journal of Clinical Immunology. 2015;35(1):22-25.

BibTex

@article{ author = {Esmaeilzadeh H and Bemanian MH and Nabavi M and Arshi S and Fallahpour M and Fuchs I and Zur Stadt U and Warnatz K and Ammann S and Ehl S and Lehmberg K and Rezaei N}, title = {Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia}, journal = {Journal of Clinical Immunology}, volume = {35}, number = {1}, pages = {22-25}, year = {2015} }

RIS

TY - JOUR
AU - Esmaeilzadeh H
AU - Bemanian MH
AU - Nabavi M
AU - Arshi S
AU - Fallahpour M
AU - Fuchs I
AU - Zur Stadt U
AU - Warnatz K
AU - Ammann S
AU - Ehl S
AU - Lehmberg K
AU - Rezaei N
TI - Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia
JO - Journal of Clinical Immunology
VL - 35
IS - 1
SP - 22
EP - 25
PY - 2015
ER -

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