Natural killer cell deficiency

JS Orange - Journal of Allergy and Clinical Immunology, 2013 - Elsevier
Natural killer (NK) cells are part of the innate immune defense against infection and cancer
and are especially useful in combating certain viral pathogens. The utility of NK cells in …

The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases

SL Bowman, J Bi‐Karchin, L Le, MS Marks - Traffic, 2019 - Wiley Online Library
Lysosome‐related organelles (LROs) comprise a diverse group of cell type‐specific,
membrane‐bound subcellular organelles that derive at least in part from the endolysosomal …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Emerging insights into human health and NK cell biology from the study of NK cell deficiencies

EM Mace, JS Orange - Immunological reviews, 2019 - Wiley Online Library
Human NK cells are innate immune effectors that play a critical roles in the control of viral
infection and malignancy. The importance of their homeostasis and function can be …

Hermansky–Pudlak syndrome: mutation update

M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies

IJ Nijman, JM van Montfrans, M Hoogstraat… - Journal of Allergy and …, 2014 - Elsevier
Background Primary immunodeficiency (PID) disorders are a heterogeneous group of
inherited disorders caused by a variety of monogenetic immune defects. Thus far, mutations …

Hermansky-pudlak syndrome

S El-Chemaly, LR Young - Clinics in chest medicine, 2016 - chestmed.theclinics.com
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder associated with
highly penetrant pulmonary fibrosis in young adults with subtypes HPS-1, HPS-2, and HPS …

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P Pennamen, L Le, A Tingaud-Sequeira, M Fiore… - Genetics in …, 2020 - nature.com
Abstract Purpose Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous
albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes …

H ermansky–P udlak syndrome: pigmentary and non‐pigmentary defects and their pathogenesis

AH Wei, W Li - Pigment cell & melanoma research, 2013 - Wiley Online Library
H ermansky–P udlak syndrome (HPS) is an autosomal recessive and genetically
heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and …

Primary immunodeficiencies: a rapidly evolving story

N Parvaneh, JL Casanova, LD Notarangelo… - Journal of allergy and …, 2013 - Elsevier
The characterization of primary immunodeficiencies (PIDs) in human subjects is crucial for a
better understanding of the biology of the immune response. New achievements in this field …