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Alexandra H. Filipovich - One of the best experts on this subject based on the ideXlab platform.

  • Downbeat nystagmus secondary to familial Hemophagocytic Lymphohistiocytosis.
    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2014
    Co-Authors: Cindy X. Cai, Frank S Siringo, Jeffrey G. Odel, Angela Lignelli-dipple, Bryan A. Lanzman, Tatyana Gindin, Alexandra H. Filipovich
    Abstract:

    Hemophagocytic Lymphohistiocytosis is a rare autosomal recessive disorder characterized by severe inflammation induced by defective natural killer cell function, which triggers a state of highly stimulated but ineffective immune response. This disorder can affect multiple organ systems, and neurologic manifestations include irritability, seizures, impaired consciousness, meningismus, and cranial nerve palsies. We describe a unique case of Hemophagocytic Lymphohistiocytosis in which downbeat nystagmus developed due to cerebellar swelling with compression of the cervicomedullary junction.

  • Familial Hemophagocytic Lymphohistiocytosis and X-linked lymphoproliferative disease.
    Annals of the New York Academy of Sciences, 2011
    Co-Authors: Rebecca A. Marsh, Alexandra H. Filipovich
    Abstract:

    Familial Hemophagocytic Lymphohistiocytosis and X-linked lymphoproliferative disease are rare, fatal, inherited immune deficiency disorders. Both diagnoses are used to describe patients who are affected by several known or presumed genetic mutations that, in common, predispose patients to the development of Hemophagocytic Lymphohistiocytosis. Many pivotal advances have been made in recent years with regard to our understanding and treatment of these diseases. Here, we will describe the genetic and functional bases of these diseases, highlight their clinical manifestations, and discuss current diagnostic and therapeutic strategies.

  • Hemophagocytic Lymphohistiocytosis and related disorders
    Current Opinion in Allergy and Clinical Immunology, 2006
    Co-Authors: Alexandra H. Filipovich
    Abstract:

    Purpose of reviewThe rate of diagnosis of Hemophagocytic Lymphohistiocytosis, a genetically heterogeneous and, frequently, rapidly fatal autosomal recessive disorder of immune regulation, is increasing worldwide. Awareness has grown through the Histiocyte Society and the publication of newly-recogni

  • Hemophagocytic Lymphohistiocytosis and related disorders.
    Current opinion in allergy and clinical immunology, 2006
    Co-Authors: Alexandra H. Filipovich
    Abstract:

    The rate of diagnosis of Hemophagocytic Lymphohistiocytosis, a genetically heterogeneous and, frequently, rapidly fatal autosomal recessive disorder of immune regulation, is increasing worldwide. Awareness has grown through the Histiocyte Society and the publication of newly-recognized genetic causes. I summarize current knowledge regarding the pathophysiology, diagnosis and treatment of Hemophagocytic Lymphohistiocytosis. Genetic defects leading to life-threatening Hemophagocytic syndromes have recently been described. Two autosomal recessive gene defects underlie 40-50% of primary (familial) cases worldwide: perforin, the major immune cytotoxic protein, and MUNC 13-4, a protein involved in exocytosis of perforin-bearing cytotoxic granules during apoptosis. Related autosomal recessive defects of secretory cytotoxic lysosomes - LYST 1 (Chediak-Higashi syndrome), Rab27A (Griscelli syndrome), and X-linked lymphoproliferative disorder - also carry a very high risk of fatal Hemophagocytic Lymphohistiocytosis. Concurrently, treatment protocols involving multiagent immunomodulatory therapy followed by allogeneic hematopoeitic cell transplantation have been tested. With immunomodulatory treatment, 75% of children with Hemophagocytic Lymphohistiocytosis are symptomatically improved after 2 months of therapy. Disease-free survival after allogeneic hematopoeitic cell transplantation currently ranges from 50 to 70%. Bench and clinical research have advanced understanding of the pathophysiology of Hemophagocytic Lymphohistiocytosis and related disorders, and significantly improved clinical outcomes during the past decade.

Atsuko Murashima - One of the best experts on this subject based on the ideXlab platform.

  • Herpes simplex virus 2-associated Hemophagocytic Lymphohistiocytosis in a pregnant patient.
    Obstetrics & Gynecology, 2005
    Co-Authors: Koushi Yamaguchi, Akiko Yamamoto, Michi Hisano, Michiya Natori, Atsuko Murashima
    Abstract:

    BACKGROUND: Uncontrolled phagocytosis of normal hemopoietic cells by activated histiocytes in bone marrow is collectively referred to as Hemophagocytic Lymphohistiocytosis. CASE: We present a case of Hemophagocytic Lymphohistiocytosis associated with herpes simplex virus-2 infection in the second trimester. Cytopenia, elevated C-reactive protein, ferritin, soluble interleukin-2 receptor, and interleukin-6 with high-grade fever were observed following genital herpes infection, and the existence of hemophagocytes in bone marrow confirmed the diagnosis of Hemophagocytic Lymphohistiocytosis. Corticosteroid therapy failed to arrest the Hemophagocytic process, whereas cyclosporin A was effective. The patient delivered a healthy infant after remission and has not experienced exacerbation. CONCLUSION: It is often important to take into consideration Hemophagocytic Lymphohistiocytosis when encountering cytopenia with high-grade fever. Cyclosporin A was a safe and available strategy for this corticosteroid-resistant case.

  • Herpes simplex virus 2-associated Hemophagocytic Lymphohistiocytosis in a pregnant patient.
    Obstetrics and gynecology, 2005
    Co-Authors: Koushi Yamaguchi, Akiko Yamamoto, Michi Hisano, Michiya Natori, Atsuko Murashima
    Abstract:

    Uncontrolled phagocytosis of normal hemopoietic cells by activated histiocytes in bone marrow is collectively referred to as Hemophagocytic Lymphohistiocytosis. We present a case of Hemophagocytic Lymphohistiocytosis associated with herpes simplex virus-2 infection in the second trimester. Cytopenia, elevated C-reactive protein, ferritin, soluble interleukin-2 receptor, and interleukin-6 with high-grade fever were observed following genital herpes infection, and the existence of hemophagocytes in bone marrow confirmed the diagnosis of Hemophagocytic Lymphohistiocytosis. Corticosteroid therapy failed to arrest the Hemophagocytic process, whereas cyclosporin A was effective. The patient delivered a healthy infant after remission and has not experienced exacerbation. It is often important to take into consideration Hemophagocytic Lymphohistiocytosis when encountering cytopenia with high-grade fever. Cyclosporin A was a safe and available strategy for this corticosteroid-resistant case.

Fatma Gumruk - One of the best experts on this subject based on the ideXlab platform.

  • Human Bocavirus: Can It Trigger Hemophagocytic Lymphohistiocytosis?
    Journal of Pediatric Hematology Oncology, 2017
    Co-Authors: Sevgen Tanır Basaranoglu, Kubra Aykac, Yasemin Ozsurekci, İnci Yaman Bajin, Betul Tavil, Fatma Gumruk, Mehmet Ceyhan
    Abstract:

    With improvements in molecular diagnostic methods, report of Human bocavirus (HBoV) as an etiologic agent in many studies on viral respiratory and gastrointestinal infections has been increasing. Two pediatric patients who presented with secondary Hemophagocytic Lymphohistiocytosis were examined for

  • Human Bocavirus: Can It Trigger Hemophagocytic Lymphohistiocytosis?
    Journal of pediatric hematology oncology, 2017
    Co-Authors: Sevgen Tanır Basaranoglu, Kubra Aykac, Yasemin Ozsurekci, İnci Yaman Bajin, Betul Tavil, Fatma Gumruk, Mehmet Ceyhan
    Abstract:

    With improvements in molecular diagnostic methods, report of Human bocavirus (HBoV) as an etiologic agent in many studies on viral respiratory and gastrointestinal infections has been increasing. Two pediatric patients who presented with secondary Hemophagocytic Lymphohistiocytosis were examined for etiologic causes, including viruses. Whole bacterial and fungal cultures and viral serological studies were negative. Viral polymerase chain reaction of nasopharyngeal secretions showed HBoV. One was successfully treated with intravenous immunoglobulins, whereas the other died with multiorgan failure. Here we report 2 pediatric patients with secondary Hemophagocytic Lymphohistiocytosis and detection of HBoV as the sole agent, predicting an association.

  • Spinal cord involvement in a child with familial Hemophagocytic Lymphohistiocytosis.
    Journal of pediatric neurosciences, 2012
    Co-Authors: Müge Gökçe, Mualla Cetin, Sule Unal, Gunay Balta, Kader Karli Oguz, Fatma Gumruk
    Abstract:

    The involvement of the central nervous system (CNS) in familial Hemophagocytic Lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented with neurological symptoms and was diagnosed as FHL by molecular diagnosis. The Hemophagocytic lesions in the CNS were shown to extend to the thoracal level of spinal cord which completely disappeared after the completion of Hemophagocytic Lymphohistiocytosis-2004 protocol.

  • Central Nervous System Involvement in Turkish Children With Primary Hemophagocytic Lymphohistiocytosis
    Journal of child neurology, 2008
    Co-Authors: Aytemiz Gurgey, Gunay Balta, Kader Karli Oguz, Selin Aytac, Fatma Gumruk
    Abstract:

    This report mainly presents the clinical and laboratory findings in a group of 15 primary Hemophagocytic Lymphohistiocytosis patients with central nervous system involvement (group 1) and compares some of the findings with those of 13 Hemophagocytic Lymphohistiocytosis patients without central nervous system involvement (group 2). Statistical analysis showed that age and sodium level at diagnosis were significantly higher while alanine aminotransferase and bilirubin levels were significantly lower in group 1 than group 2 (P < .05). There were no statistically significant differences between the 2 groups in the other clinical, laboratory, and overall survival parameters. Three patients in group 1 initially had central nervous system involvement in the absence of systemic findings, which led to the initial misdiagnosis of these patients as central nervous system disorders other than Hemophagocytic Lymphohistiocytosis.

  • Secondary Hemophagocytic Lymphohistiocytosis in Turkish children.
    The Pediatric infectious disease journal, 2005
    Co-Authors: Aytemiz Gurgey, Betul Tavil, Mehmet Ceyhan, Gülten Seçmeer, Baris Kuskonmaz, Bülent Cengiz, Hasan Özen, Ateş Kara, Mualla Cetin, Fatma Gumruk
    Abstract:

    Between January 1998 and January 2005, a total of 18 children 2 weeks-72 months of age were diagnosed as having secondary Hemophagocytic Lymphohistiocytosis. The frequency of secondary Hemophagocytic Lymphohistiocytosis among total hospitalized patients during this period was 0.05% (18 of 34,250). Of the 18 patients, 8 (44.5%) had bacterial infections; cytomegalovirus and Epstein-Barr virus infections were present in 5 (28%) and 1 (5.5%), patient, respectively. Leishmaniasis was diagnosed in 2 patients (11%), and herpes simplex virus was diagnosed in 2 patients (11%). Six patients died during treatment, and 1 patient was lost to follow-up. The survival rate was 61%.

Hidenori Oguchi - One of the best experts on this subject based on the ideXlab platform.

  • Hemophagocytic Lymphohistiocytosis associated with a parvovirus B19 infection during pregnancy.
    Obstetrics and gynecology, 2014
    Co-Authors: Michinori Mayama, Masato Yoshihara, Tetsuya Kokabu, Hidenori Oguchi
    Abstract:

    Hemophagocytic Lymphohistiocytosis is potentially fatal. Prompt diagnosis and initiation of treatment are critical for ensuring the best possible prognosis. We present a case of parvovirus B19 infection related to Hemophagocytic Lymphohistiocytosis during pregnancy. The patient experienced fever and pancytopenia. A bone marrow biopsy demonstrated hemophagocytosis and a giant proerythroblasts, which is characteristic of a parvovirus B19 infection. Viral serology for parvovirus B19 was positive. Prompt treatment was started because of the high level of certainty of viral-associated Hemophagocytic Lymphohistiocytosis, and the patient was successfully treated with prednisolone administration. She delivered a healthy newborn without any complications. Hemophagocytic Lymphohistiocytosis should be considered when encountering unexplained cytopenia and fever. Prednisolone was an effective treatment.

  • Hemophagocytic Lymphohistiocytosis Associated With a Parvovirus B19 Infection During Pregnancy
    Obstetrics & Gynecology, 2014
    Co-Authors: Michinori Mayama, Masato Yoshihara, Tetsuya Kokabu, Hidenori Oguchi
    Abstract:

    BACKGROUND: Hemophagocytic Lymphohistiocytosis is potentially fatal. Prompt diagnosis and initiation of treatment are critical for ensuring the best possible prognosis. CASE: We present a case of parvovirus B19 infection related to Hemophagocytic Lymphohistiocytosis during pregnancy. The patient experienced fever and pancytopenia. A bone marrow biopsy demonstrated hemophagocytosis and a giant proerythroblasts, which is characteristic of a parvovirus B19 infection. Viral serology for parvovirus B19 was positive. Prompt treatment was started because of the high level of certainty of viral-associated Hemophagocytic Lymphohistiocytosis, and the patient was successfully treated with prednisolone administration. She delivered a healthy newborn without any complications. CONCLUSION: Hemophagocytic Lymphohistiocytosis should be considered when encountering unexplained cytopenia and fever. Prednisolone was an effective treatment.

Tapan M. Kadia - One of the best experts on this subject based on the ideXlab platform.