Children and Adult Hemophagocytic Syndrome (HLHa)
Children and Adult Hemophagocytic Syndrome (HLHa)
Different study of HLHa patients :

 -  Diagnosis criteria, because criteria are based on pediatric genetic studies.

 -  Physiopathological studies: genetic studies have demonstrated the role of CD8+ cells, in
 particular because they have a genetic defect affecting their cytotoxic functions in HLH
 pediatric. the aim is to establish if the same defect is found in both some or in all of
 HLHa patients. If this is the case, to then establish whether hypomorphic genetic
 mutations are responsible.
Formation of a prospective and retrospective infant, adolescent and adult HLH patients
 cohort.

 Collection of clinical and biological, therapeutics, informations, in a register, The
 collection of information is:

 -  To identify clinical and biological criteria specific to HLHa

 -  Classify patients into homogeneous groups, based on clinical biological scalability in
 particular, with regards to their response to treatment

 -  Identify and analyze the behavioral therapy Creation of a bank of biological samples for
 use in the study of the pathophysiology of HLHa.

 Background:

 The hemophagocytic syndrome in infant, adolescent and adults (HLH) is a serious and often
 lethal condition. The study of literature series HLHa shows that these syndromes frequently
 develop in immunocompromised patients (renal transplant, HIV, collagen in Processing
 immunosuppressants) in the course of a viral infection. HLH syndrome has also been described
 as a clinical form of lymphoma or connective disease (lupus). These clinical forms are rare,
 severe and recurrent suggesting the possibility that immune deficiency could be involved. The
 study of pediatric forms has definitely established a link between HLH syndrome and the
 presence of immune deficiency by identifying the nature of the latter. Four genetically
 determined diseases are manifested by HLH syndrome. These conditions are Family
 lymphohistiocytosis (LHF) syndrome, Chediak-Higashi CHS syndrome, Griscelli (GS) type 2
 syndromes and X-linked lymphoproliferative (XLP 1 and 2). The mutated genes are respectively
 perforin Unc 13.4 and syntaxin in the LHF2, 3, 4 (10q locus genetic for LHF 1), CHS1/LYST
 (Lysosomal Trafficking regulator) in the CHS, in the Rab27a GS type 2, and XIAP and SH2D1A in
 the XLP. It is now well established that proteins encoded by these genes are necessary for
 the cytotoxic function of CD8 + and in the absence of these proteins is the cytotoxocity CD8
 + deficient. Also, closed clinical and biological characteristics shared by pediatric genetic
 and adult forms suggest the existence of immune defects responsible for some or all HLH adult
 patients.
Inclusion Criteria:

 Major criteria:

 -  hemophagocytosis found in a specimen histology.

 -  Fever

 -  Splenomegaly

 Minor criteria:

 -  adenopathy

 -  cytopenia> 2 cell lines Hemoglobin <9 g / dl (less than 4 weeks and> 12 g / dl)
 Platelets <100 000 x 10 / l Neutrophils <1 10 / l

 -  hypertriglyceridaemia and / or hypofibrinogenaemia Elevated triglycerides> 3 mmol / l
 Fibrinogen <1.5 g / l

 -  Ferritin> 500 microg / L

 These criteria will be those used for the diagnosis of HLH in adults:

 One major criterion and two minor (including hyper ferritin or hypertriglyceridemia) 3
 minor criteria (including hyper ferritin or hypertriglyceridemia)

 Exclusion Criteria:

 -  Pregnant women

 -  A person under guardianship

 -  Patients under the age of 2 years