Review
Medical Laboratory Technology
Tanya Sajan Ponnatt, Cullen M. Lilley, Kamran M. Mirza
Summary: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder of immune regulation that requires rapid diagnosis and aggressive management. Understanding the pathogenesis and early diagnosis of HLH plays a crucial role in determining patient outcome. HLH can be caused by genetic mutations or acquired factors, and proper management is essential for improving prognosis.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2022)
Article
Immunology
David X. Liu, Bapi Pahar, Timothy K. Cooper, Donna L. Perry, Huanbin Xu, Louis M. Huzella, Ricky D. Adams, Amanda M. W. Hischak, Randy J. Hart, Rebecca Bernbaum, Deja Rivera, Scott Anthony, Marisa St Claire, Russell Byrum, Kurt Cooper, Rebecca Reeder, Jonathan Kurtz, Kyra Hadley, Jiro Wada, Ian Crozier, Gabriella Worwa, Richard S. Bennett, Travis Warren, Michael R. Holbrook, Connie S. Schmaljohn, Lisa E. Hensley
Summary: In this study, the researchers found that rhesus monkeys infected with the Ebola virus exhibit pathophysiological features similar to hemophagocytic lymphohistiocytosis syndrome/macrophage activation syndrome. Therefore, regulating inflammation and immune function may provide an effective treatment for controlling the pathogenesis of acute Ebola virus disease.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Medicine, General & Internal
Sebastian Schnaubelt, Daniel Tihanyi, Robert Strassl, Ralf Schmidt, Sonja Anders, Anton N. Laggner, Hermine Agis, Hans Domanovits
Summary: The study reviewed three patients with COVID-19 who exhibited hyperinflammation and cytokine storm, requiring intensive care treatment. Diagnosis of secondary sHLH was made using HScore. A treatment regimen of methylprednisolone, pentaglobin, and anakinra was developed and administered. One patient survived while two others, diagnosed late, deceased.
Article
Immunology
Sylvain Raimbault, Guillaume Monneret, Morgane Gossez, Fabienne Venet, Alexandre Belot, Franck Zekre, Solene Remy, Etienne Javouhey
Summary: In this study, the researchers examined the use of monocyte human leucocyte antigen (mHLA)-DR as a potential diagnostic marker for secondary HLH (sHLH). They found that levels of mHLA-DR were significantly higher in patients with sHLH compared to healthy children and those with septic shock. Additionally, mHLA-DR levels decreased after treatment initiation. The findings suggest that elevated mHLA-DR could aid in the diagnosis of sHLH and distinguish it from septic shock.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Infectious Diseases
Marie-Lisa Hieber, Rosanne Sprute, Dennis A. Eichenauer, Michael Hallek, Ron D. Jachimowicz
Summary: This study reported a case of severe HLH after SARS-CoV-2 immunization and reviewed all reported cases of COVID-19 vaccine-associated HLH. It was found that COVID-19 vaccines may occasionally trigger HLH, and Anakinra may be an efficacious treatment option for this condition.
Article
Virology
Hans Martin Orth, Andre Fuchs, Nadine Luebke, Bjoern-Erik Ole Jensen, Tom Luedde
Summary: We report an unusual case of recurrent Hemophagocytic lymphohistiocytosis (HLH) caused by Parvovirus B19 infection. The recurrent viremia triggered three episodes of hyperinflammation, two of which were clearly diagnosed as HLH. This case provides new insight into triggering mechanisms for HLH.
Article
Immunology
Antonia Pascarella, Claudia Bracaglia, Ivan Caiello, Alessia Arduini, Gian Marco Moneta, Marianna Nicoletta Rossi, Valentina Matteo, Manuela Pardeo, Fabrizio De Benedetti, Giusi Prencipe
Summary: This study found that untreated sHLH/MAS patients had higher levels of phosphorylated STAT1 in monocytes compared to glucocorticoid-treated patients, indicating a hyperreactivity to IFN gamma stimulation. These findings suggest that pSTAT1 levels may serve as a potential biomarker for early identification of sHLH/MAS.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Rheumatology
S. D. Good, S. D. Wade, V. C. Kyttaris
Summary: Secondary hemophagocytic lymphohistiocytosis (sHLH) is a life-threatening inflammatory syndrome that can be triggered by autoimmune diseases, malignancy, or infection. This study aimed to compare the clinical features and laboratory parameters of macrophage activation syndrome (MAS) and malignancy-associated HLH (mHLH) patients. Significant differences were found in platelet counts, soluble IL-2R concentration, and hepatomegaly between the two groups.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Multidisciplinary Sciences
Dominik Bursa, Agnieszka Bednarska, Andrzej Pihowicz, Marcin Paciorek, Andrzej Horban
Summary: This study assessed the occurrence of HLH features in patients with sepsis, finding that some patients may develop sepsis with HLH-like syndrome (SHLS) without impacting their risk of death. Duopenia, hypertriglyceridemia, hypofibrinogenemia, and high levels of sCD25 are uncommon in sepsis and may indicate real HLH syndrome. Hyperferritinemia, even as high as in real HLH syndrome, can be observed in sepsis patients.
SCIENTIFIC REPORTS
(2021)
Article
Rheumatology
Maria L. Taylor, Kacie J. Hoyt, Joseph Han, Leslie Benson, Siobhan Case, Mia T. Chandler, Margaret H. Chang, Craig Platt, Ezra M. Cohen, Megan Day-Lewis, Fatma Dedeoglu, Mark Gorman, Jonathan S. Hausmann, Erin Janssen, Pui Y. Lee, Jeffrey Lo, Gregory P. Priebe, Mindy S. Lo, Esra Meidan, Peter A. Nigrovic, Jordan E. Roberts, Mary Beth F. Son, Robert P. Sundel, Maria Alfieri, Jenny Chan Yeun, Damilola M. Shobiye, Barbara Degar, Joyce C. Chang, Olha Halyabar, Melissa M. Hazen, Lauren A. Henderson
Summary: Implementing an evidence-based guideline in the management of hemophagocytic lymphohistiocytosis and macrophage activation syndrome in children improves clinical outcomes, including reduction in mortality, shorter time to decrease in inflammatory markers, and improved treatment effects.
JOURNAL OF RHEUMATOLOGY
(2022)
Review
Oncology
Jonathan Paolino, Nancy Berliner, Barbara Degar
Summary: HLH is a syndrome of multiorgan system dysfunction caused by hypercytokinemia and persistent activation of cytotoxic T lymphocytes and macrophages. A common finding and diagnostic criterion of HLH is cytopenias in >= 2 cell lines. The mechanism of cytopenias in HLH is multifactorial, mainly driven by suppression of hematopoiesis by pro-inflammatory cytokines.
FRONTIERS IN ONCOLOGY
(2022)
Review
Rheumatology
Mehmet Soy, Pamir Atagunduz, Isik Atagunduz, Gulsan Turkoz Sucak
Summary: Hemophagocytic syndrome (HPS) or hemophagocytic lymphohistiocytosis (HLH) is an acute systemic inflammatory disorder characterized by excessive cytokine production and hyperferritinemia. It can be primary, caused by genetic mutations, or secondary, triggered by underlying disorders like malignancies or infections. In COVID-19 patients, secondary HLH and cytokine storm may lead to severe symptoms such as progressive fever, cytopenia, ARDS, and organ failure. Early differentiation and classification are crucial for appropriate treatment strategies.
RHEUMATOLOGY INTERNATIONAL
(2021)
Review
Gastroenterology & Hepatology
Elliot S. Coburn, Corey A. Siegel, Michael Winter, Eric D. Shah
Summary: HLH is rare among IBD patients treated with biologics, with most cases having identifiable infection or malignancy at diagnosis and a history of immunomodulator use. Survival rate is 70%, with risk factors possibly including younger age, male gender, Crohn's disease, and treatment induction phase.
DIGESTIVE DISEASES AND SCIENCES
(2021)
Article
Medicine, General & Internal
Tsung-Yen Chen, Mei-Hsin Hsu, Hsuan-Chang Kuo, Jiunn-Ming Sheen, Ming-Chou Cheng, Ying-Jui Lin
Summary: In the study of hemophagocytic lymphohistiocytosis, it was found that patients with infection associated hemophagocytic syndrome have a higher mortality rate, while patients with malignancy associated hemophagocytic lymphohistiocytosis have the lowest mortality rate. Clinical parameters such as activated partial thromboplastin time, sodium concentration, creatinine, and aspartate aminotransferase levels are associated with patient mortality.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
(2021)
Article
Pediatrics
Oksana Boyarchuk, Olha Dyvonyak, Tetyana Hariyan, Alla Volokha
Summary: This article reports a 3-year-old boy with APECED who had recurrent COVID-19 and developed retinopathy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection. Subsequent infections triggered severe hyperinflammation with signs of HLH. Despite treatment, the patient had a fatal outcome. This article highlights the importance of recognizing and managing HLH in patients with immune dysregulation and impaired viral response.
FRONTIERS IN PEDIATRICS
(2023)
Letter
Allergy
Eduardo Liquidano-Perez, Adriana del Carmen Alva-Chaire, Marco Antonio Yamazaki-Nakashimada, Angela Andrea Pesantez Abril, Sara Alejandra Solorzano Morales, Alfonso G. Ramirez Ristori, Tania Barragan Arevalo, Maria Edith Gonzalez-Serrano, Selma C. Scheffler-Mendoza, Rodolfo Rodriguez-Jurado
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2022)
Editorial Material
Allergy
L. Blancas-Galicia, A. K. Penafiel-Vicuna, S. Scheffler-Mendoza, M. Rojas-Maruri, F. Rivas-Larrauri, A. L. Rodriguez-Lozano, J. Bustamante, M. A. Yamazaki-Nakashimada
JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Ana Karen Penafiel Vicuna, Marco Yamazaki Nakashimada, Ximena Leon Lara, Elizabeth Mendieta Flores, Maria Enriqueta Nunez Nunez, Juan Carlos Lona-Reyes, Leticia Hernandez Nieto, Maria Guadalupe Ramirez Vazquez, Joel Barroso Santos, Alvaro Lopez Iniguez, Yolanda Gonzalez, Martha Torres, Jose Luis Lezana Fernandez, Carla M. Roman Montes, Edgar Alejandro Medina-Torres, Edith Gonzalez Serrano, Juan Carlos Bustamante Ogando, Saul Lugo Reyes, Oscar Zavaleta Martinez, Aide Tamara Staines Boone, Edna Venegas Montoya, Nancy Evelyn Aguilar Gomez, Camille Soudee, Emmanuelle Jouanguy, Anne Puel, Stephanie Boisson-Dupuis, Sigifredo Pedraza Sanchez, Jean-Laurent Casanova, Francisco Espinosa Rosales, Sara Espinosa Padilla, Jacinta Bustamante, Lizbeth Blancas Galicia
Summary: This study reviewed the clinical, immunological, and genetic characteristics of MSMD patients in Mexico and identified IL12RB1 gene defect as the main cause of MSMD in the cohort. BCG infection was found to be the primary cause of morbidity and mortality in these patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Review
Allergy
Estefania Vasquez-Echeverri, Marco Antonio Yamazaki-Nakashimada, Edna Venegas Montoya, Selma Cecilia Scheffler Mendoza, Lina Maria Castano-Jaramillo, Edgar Alejandro Medina-Torres, Maria Edith Gonzalez-Serrano, Melissa Espinosa-Navarro, Juan Carlos Bustamante Ogando, Maria Guadalupe Gonzalez-Villarreal, Margarita Ortega Cisneros, Pedro Francisco Valencia Mayoral, Alejandra Consuelo Sanchez, Gustavo Varela-Fascinetto, Rosa Maria Nideshda Ramirez-Uribe, Yuridia Salazar Galvez, Laura Cecilia Bonifaz Alonzo, Ezequiel Moises Fuentes-Panana, Noemi Gomez Hernandez, Cesar Mauricio Rojas Maruri, Jean-Laurent Casanova, Sara Elva Espinosa-Padilla, Aide Tamara Staines Boone, Gabriel Lopez-Velazquez, Bertrand Boisson, Saul Oswaldo Lugo Reyes
Summary: This study describes the clinical, laboratory, and genetic features of six patients from four Mexican families with hereditary actin-related protein 2/3 complex subunit 1B deficiency. The results expand the clinical spectrum of the disease and suggest possible genetic causes.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Meeting Abstract
Immunology
Lina Castano-Jaramillo, Francisco Rivas Larrauri, Selma Cecilia Scheffler-Mendoza, Alonso Gutierrez Hernandez, Sandra Rajme, Ana Luisa Rodriguez-Lozano, Marco Antonio Yamazaki-Nakashimada, Sara Elva Espinosa-Padilla, Saul Lugo Reyes
CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Hari K. Narayan, Anel Lizcano, Tracy Lam-Hine, Rolando Ulloa-Gutierrez, Emelia V. Bainto, Luis M. Garrido-Garcia, Dora Estripeaut, Olguita del Aguila, Virgen Gomez, Enrique Faugier-Fuentes, Greta Mino-Leon, Sandra Beltran, Fernanda Cofre, Enrique Chacon-Cruz, Patricia Saltigeral-Simental, Lucila Martinez-Medina, Lourdes Duenas, Kathia Luciani, Francisco J. Rodriguez-Quiroz, German Camacho Moreno, Tamara Viviani, Martha I. Alvarez-Olmos, Heloisa Helena de Sousa Marques, Eduardo Lopez-Medina, Maria C. Pirez, Adriana H. Tremoulet
Summary: This study described the clinical presentation, management, and outcomes of Kawasaki disease (KD) in Latin America and evaluated early prognostic indicators of coronary artery aneurysm (CAA). The results showed that a maximum coronary artery z-score >= 2.5 at initial presentation was the most important prognostic factor preceding CAA during follow-up.
JOURNAL OF PEDIATRICS
(2023)
Letter
Medicine, General & Internal
Brian W. McCrindle, Ashraf S. Harahsheh, Ryan Handoko, Geetha Raghuveer, Michael A. Portman, Michael Khoury, Jane W. Newburger, Simon Lee, Supriya S. Jain, Manaswitha Khare, Nagib Dahdah, Cedric Manlhiot
Summary: The severity of multisystem inflammatory syndrome in children (MIS-C) has decreased with each subsequent SARS-CoV-2 variant, but critical illness remains prevalent in hospitalized patients with MIS-C.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Pediatrics
Marco Antonio Yamazaki-Nakashimada, Horacio Marquez-Gonzalez, Guadalupe Miranda-Novales, Gonzalo Antonio Neme Diaz, Sandhi Anel Prado Duran, Antonio Luevanos Velazquez, Maria F. Castilla-Peon, Nadia Gonzalez-Garcia, Miguel Alejandro Sanchez Duran, Martha Patricia Marquez Aguirre, Miguel Angel Villasis-Keever, Ranferi Aragon Nogales, Juan Carlos Nunez-Enriquez, Maria Elena Martinez Bustamante, Carlos Aguilar Arguello, Jesus Ramirez de los Santos, Alejandra Perez Barrera, Lourdes Anais Palacios Cantu, Jesus Membrila Mondragon, Paloma Vizcarra Alvarado, Rodolfo Norberto Jimenez Juarez, Victor Olivar Lopez, Roberto Velasco-Segura, Adrian Lopez Chavez
Summary: This study investigates the clinical characteristics and outcomes of children with Multisystem Inflammatory Syndrome in Children associated with COVID-19 (MIS-C). The study finds that MIS-C is associated with severe outcomes such as coronary artery aneurysm and death. The mortality rate in this study was higher than reported in other series, possibly due to a high rate of cases with serious underlying diseases.
FRONTIERS IN PEDIATRICS
(2023)
Letter
Rheumatology
Luisa Berenise Gamez-Gonzalez, Rolando Ulloa-Gutierrez, Marco Antonio Yamazaki-Nakashimada
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
(2023)
Article
Allergy
Luisa Berenise Gamez-Gonzalez, Luis Xochihua-Diaz, Moises Ramirez-Lopez, Marcela Colmenero-Rascon, Emiy Yokoyama-Rebollar, Itzya Hernandez-Santiago, Abner Bojalil-Cabildo, Marco Antonio Yamazaki-Nakashimada
Summary: The etiology of Kawasaki disease (KD) and its precise genetic basics remain unknown, but genetic variants affecting immunity have been found in some patients. Although the occurrence of KD in siblings is rare, KD pedigrees with multiple affected members have been described in Japan and North America. Cases in twins have been documented. We report 2 pairs of trizygotic triplets who developed KD associated with SARS-CoV2 infection from 2 different families. Our cases show that KD is multifactorial in origin, and both infectious etiology (particularly SARS-CoV2 as in our cases) and genetic factors are relevant in the disease.
PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
(2023)
Article
Neurosciences
Elizabeth Alejandra de la Cruz Cordoba, Juan Antonio Gonzalez Medrano, Patricia Herrera Mora, Gilberto Gomez-Garza, Maria Edith Gonzalez-Serrano, Marco Antonio Yamazaki-Nakashimada, Carmen Alicia Correa-Ramirez
Summary: Ataxia-telangiectasia (A-T) is a disease caused by mutations in the ATM gene, characterized by ataxia, mucocutaneous telangiectasia, immunodeficiency, and malignancy. Patients with A-T also experience neurocognitive and emotional disorders, showing features of cerebellar cognitive affective syndrome (CCAS). This study investigated the neurocognitive and emotional state of 9 pediatric patients with A-T and found impaired executive functioning, visual-motor integration and abilities, language problems, emotional disorders, and ataxia.
Article
Allergy
Marco Antonio Yamazaki-Nakashimada, Patricia Herrera-Mora, Alfonso Mahrx-Bracho, Gabriela Lopez-Herrera, Juan Carlos Bustamante-Ogando, Selma Cecilia Scheffler-Mendoza
Summary: Most patients with X-linked agammaglobulinemia are prone to infections, and some may also develop inflammatory or autoimmune complications. This article presents a case study of a patient with progressive encephalitis who showed improvement after receiving immunomodulatory treatment. Based on the authors' experience and literature review, they propose the use of this combined treatment to manage this devastating complication.
IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
(2023)
Article
Allergy
Elma Isela Fuentes-Lara, Gabriel Emmanuel Arce-Estrada, Abner Bojalil-Cabildo, Marco Antonio Yamazaki-Nakashimada, Sara Elva Espinosa-Padilla, Luisa Berenise Gamez-Gonzalez, Rosa Maria Nideshda Ramirez-Uribe, Omar Josue Saucedo-Ramirez, Laura Berron-Ruiz
Summary: This study reports the clinical and immunological characteristics of six Mexican patients diagnosed with LAD-1, highlighting atypical manifestations not described in other countries and emphasizing the importance of flow cytometry in the diagnosis of LAD-1.
ALLERGOLOGIA ET IMMUNOPATHOLOGIA
(2023)
Article
Genetics & Heredity
Lina M. Castano-Jaramillo, Francisco Rivas Larrauri, Selma C. Scheffler-Mendoza, Alonso Gutierrez-Hernandez, Juan Carlos Bustamante Ogando, Paulina Colin, Margarita Ortega Cisneros, Sandra Rajme-Lopez, Edgar Alejandro Medina-Torres, Laura Berron Ruiz, Ana Luisa Rodriguez-Lozano, Sara Elva Espinosa Padilla, Marco Antonio Yamazaki-Nakashimada, Saul O. Lugo Reyes
Summary: In this study, the genetic causes of autoimmune disorders in pediatric patients were investigated. The research found that autoimmune diseases are often caused by a combination of genetic factors, but suspicion should be raised for underlying genetic errors in cases of young age onset, treatment resistance, and the presence of autoimmune symptoms alongside infectious diseases.
JOURNAL OF GENETICS
(2023)