Hemophagocytic lymphohistiocytosis: A concise review for the practicing physician

Sifers, Travis; Raje, Nikita; Dinakar, Chitra

doi:10.2500/aap.2016.37.3948

Cited by 6 publications

(5 citation statements)

References 13 publications

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“…The signs and symptoms of HLH are widely heterogeneous and nonspecific, ranging from persistent unexplained fever to sepsis. Therefore, the first condition of diagnosis is always suspicion (11,19). In general, HLH clinical manifestations are serious; frequently resulting in complications such as sepsis, bleeding, and multiorgan failure.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The main and most common symptom of HLH is fever and it is frequently unremitting, seen persistent for 3-7 days, and present at the onset. It should always be considered that fever may not be present in the neonatal period (19,20). Moreover, organomegaly (splenomegaly, hepatomegaly, hepatosplenomegaly or lymphadenopathy), neurologic involvement, signs of liver dysfunction and bleeding symptoms like hemorrhage, petechiae, purpura ,ecchymosis can be present in physical examination (21,22).…”

Section: Clinical Presentationmentioning

confidence: 99%

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Hemophagocytic lymphohistiocytosis: pouring gasoline on the cytokine storm

Abuzaid¹,

Akyol²,

Alcalı³

et al. 2022

Kastamonu Med J

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Hemophagocytic lymphohistiocytosis should be considered in patients with persistent fever, hepatosplenomegaly, pancytopenia. Hypercytokinemia originated from genetic disorder effecting the cellular defects of cytotoxic T and natural killer lymphocyte activity is the underlying pathophysiology of the disorder. In this review we summarized the recent advances in the management of hemophagocytic lymphohistiocytosis.

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Section: Clinical Presentationmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Hemophagocytic lymphohistiocytosis: pouring gasoline on the cytokine storm

Abuzaid¹,

Akyol²,

Alcalı³

et al. 2022

Kastamonu Med J

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“…The signs and symptoms of HLH can be nonspecific, ranging from persistent fevers to sepsis physiology, so the index of suspicion must be kept high to make the diagnosis. 19 The main symptoms associated with HLH include prolonged high fever, hepatosplenomegaly, and cytopenias. 10 Other clinical findings include hepatitis, neurological symptoms (such as seizures, meningismus, decreased level of consciousness), rash, pulmonary dysfunction, and lymphadenopathy.…”

Section: Signs and Symptomsmentioning

confidence: 99%

An Overview of Hemophagocytic Lymphohistiocytosis

Esteban¹,

Jong²,

Tesher³

2017

Pediatr Ann

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Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by a dysregulated hyperinflammatory response associated with aberrant activation of lymphocytes and macrophages that results in hypercytokinemia. It is classically divided into two types: (1) primary or familial HLH and (2) secondary HLH. Familial HLH is generally an autosomal recessive condition, whereas secondary HLH is usually associated with infectious diseases, autoinflammatory and autoimmune diseases (where it is more commonly known as macrophage activation syndrome), malignancy, immunosuppression, hematopoietic stem cell transplantation, organ transplantation, HIV infection, and metabolic diseases. Although its clinical presentation is often similar to bacterial sepsis or systemic inflammatory response syndrome, HLH can be life-threatening. As such, it is imperative to recognize and diagnose HLH in a timely manner to optimize care. [Pediatr Ann. 2017;46(8):e309-e313.].

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“…Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous group of disorders related to dysregulation of the immune system (PID class 4) that are classified into two groups, namely genetic (familial HLH (FHL)) and acquired forms based on the etiology. FHL includes five forms of loss-of-function mutation (FHL1-5) leading to defects in the cytotoxic granule secretion pathway in NK and CD8 + T-cells, and they consequently lead to failure in exocytosis of granules in immunologic synopsis and completely eradicate target cells, in situation of immune response (Sifers et al, 2016). HLH can also occur due to infections and autoinflammatory/autoimmune and malignant diseases which are known as the acquired forms (Janka, 2012).…”

mentioning

confidence: 99%

Whole exome analysis of primary immunodeficiency

Rahmani¹,

Azarpara²,

Karimipoor³

et al. 2018

Vestn. VOGiS

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1 Факультет медицинских биотехнологий, Школа комплементарной медицины, Иранский университет медицинских наук, Тегеран, Иран 2 Факультет медицины, Иранский университет медицинских наук, Тегеран, Иран 3 Факультет молекулярной медицины, Исследовательский центр био-технологий, Институт Пастера Ирана, Тегеран, ИранПервичный иммунодефицит представляет собой гетеро-генную группу редких наследственных мутаций единич-ного гена, вызывающих сбой в работе иммунной системы человека и проявляющихся в предрасположенности паци -ентов к тяжелым жизнеугрожающим инфекциям. Гетеро-генная природа первичного иммунодефицита, при кото-рой мутации могут быть подвержены по меньшей мере 300 различных генов, серьезно осложняет его диагностику. И хотя было подсчитано, что от этого заболевания могут страдать около шести миллионов человек, только немно-гие из них могут рассчитывать на постановку правильного диагноза. Однако развитие методов секвенирования ДНК и доступность высокотехнологичного оборудования поз-волили сделать значительный шаг вперед в области моле-кулярных исследований генетических заболеваний. Тех-нология полноэкзомного анализа ДНК может оказать су ще-ственную помощь врачам при диагностировании менде-левских предрасположенностей к микробактериальным инфекциям и других форм редких генетических заболева-ний. В представленном исследовании мы использовали метод полноэкзомного анализа ДНК для обследования двух младенцев с симптомами первичного иммунодефи-цита, такими как гемофагоцитарный лимфогистиоцитоз (ГЛГ) и тяжелый комбинированный иммунодефицит (ТКИД). Полноэкзомный анализ выявил мутацию UNC13D гена (NM_199242.2:c.627delT) у пациента с ГЛГ и мутацию RAG1 гена (NM_000448.2:c.322C>G) -у пациента с ТКИД. Исследо-вание показало, что полноэкзомный анализ -это быстрый и экономичный метод, помогающий поставить правильный диагноз пациентам с первичным иммунодефицитом.Ключевые слова: первичный иммунодефицит; секвениро-вание нового поколения; UNC13D; RAG1.The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. The presented study used WES to investigate two infants with symptoms of primary immunodeficiency including hemophagocytic lymphohistiocytosis (HLH) and severe combined immunodeficiency (SCID). It has been shown that the HLH patient had a mutati...

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Hemophagocytic lymphohistiocytosis: A concise review for the practicing physician

Cited by 6 publications

References 13 publications

Hemophagocytic lymphohistiocytosis: pouring gasoline on the cytokine storm

Hemophagocytic lymphohistiocytosis: pouring gasoline on the cytokine storm

An Overview of Hemophagocytic Lymphohistiocytosis

Whole exome analysis of primary immunodeficiency

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