Genomics Precision Diagnostic > Immunology Precision Panel > Hemophagocytic Lymphohistiocytosis Precision Panel

Hemophagocytic Lymphohistiocytosis Precision Panel

Overview

Hemophagocytic Lymphohistiocytosis (HLH) is a condition where the organism produces too many activated immune cells (macrophages and lymphocytes), creating a state of uncontrolled hyperinflammatory response. Symptoms usually develop within the first months or years of life. Primary HLH are linked to mutations impairing lymphocyte cytotoxicity whereas secondary HLH are triggered by infection, autoimmune disease or neoplasia. Inherited forms of HLH normally involve genes that provide instructions for proteins that help destroy or turn off activated immune cells when they are no longer needed. They are transmitted in an autosomal recessive manner. Early identification of this disease is crucial as it has high rates of morbidity and mortality if under-recognized.
The Igenomix Hemophagocytic Lymphohistiocytosis Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of early recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment involving a multidisciplinary team focusing on haematopoietic stem cell transplantation, medical treatment including immune suppressants, steroids and immunoglobins.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*AP3B1*	Hermansky-Pudlak Syndrome	AR	100	34 of 35
*AP3D1*	Hermansky-Pudlak Syndrome, Ocular Albinism	AR	99.69	5 of 5
*CD27*	Lymphoproliferative Syndrome	AR	100	8 of 8
*CD70*	Lymphoproliferative Syndrome	AR	99.89	4 of 4
*CTPS1*	Immunodeficiency	AR	100	4 of 4
*GATA2*	Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Deafness- Lymphedema- Leukemia Syndrome	AD	100	137 of 142
*ITK*	Lymphoproliferative Syndrome	AR	100	19 of 19
*LYST*	Chediak-Higashi Syndrome	AR	99.98	117 of 117
*MAGT1*	Congenital Disorder Of Glycosylation, X-linked Immunodeficiency	X,XR,G	100	–
*NLRC4*	Autoinflammation With Infantile Enterocolitis, Familial Cold Autoinflammatory Syndrome	AD	99.54	15 of 15
*PRF1*	Aplastic Anemia, Familial Hemophagocytic Lymphohistiocytosis, Non-Hodgkin Lymphoma, Idiopathic Aplastic Anemia	AR	99.99	196 of 196
*RAB27A*	Griscelli Syndrome	AR	100	54 of 55
*SH2D1A*	Lymphoproliferative Syndrome	X,XR,G	99.94	–
*SLC7A7*	Lysinuric Protein Intolerance	AR	100	61 of 61
*STX11*	Hemophagocytic Lymphohistiocytosis	AR	100	24 of 24
*STXBP2*	Hemophagocytic Lymphohistiocytosis	AR	99.17	88 of 93
*UNC13D*	Familial Hemophagocytic Lymphohistiocytosis	AR	99.78	197 of 202
*XIAP*	X-linked Lymphoproliferative Syndrome	X,XR,G	99.94	–

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD