ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients

A Eken, M Cansever, FZ Okus, S Erdem, E Nain… - Allergy, 2020 - Wiley Online Library
Background Dedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the
autosomal recessive hyper‐IgE syndrome (HIES). We previously reported the selective loss …

Flow cytometry for diagnosis of primary immune deficiencies—a tertiary center experience from North India

A Rawat, K Arora, J Shandilya, P Vignesh… - Frontiers in …, 2019 - frontiersin.org
Flow cytometry has emerged as a useful technology that has facilitated our understanding of
the human immune system. Primary immune deficiency disorders (PIDDs) are a …

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency

S Haskologlu, S Kostel Bal, C Islamoglu… - Pediatric Allergy and …, 2020 - Wiley Online Library
Biallelic mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a progressive
combined immunodeficiency (CID) characterized by susceptibility to severe viral skin …

HPV-related skin phenotypes in patients with inborn errors of immunity

A El Kettani, F Ailal, J El Bakkouri, K Zerouali, V Béziat… - Pathogens, 2022 - mdpi.com
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a
broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue …

Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8–deficient patients

CS Happel, KD Stone, AF Freeman… - Journal of Allergy and …, 2016 - jacionline.org
REFERENCES 1. Loss G, Apprich S, Waser M, Kneifel W, Genuneit J, Buchele G, et al. The
protective effect of farm milk consumption on childhood asthma and atopy: the GABRIELA …

Recent advances in DOCK8 immunodeficiency syndrome

Q Zhang, H Jing, HC Su - Journal of clinical immunology, 2016 - Springer
Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in
2009, several hundred patients worldwide have been reported, validating and extending the …

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation

LM Moser, J Fekadu, A Willasch… - British Journal of …, 2023 - Wiley Online Library
Patients with inborn errors of immunity (IEI) can suffer from treatment‐refractory inflammatory
bowel disease (IBD) causing failure to thrive and consequences of long‐term multiple …

Treosulfan-based conditioning for inborn errors of immunity

MA Slatter, AR Gennery - Therapeutic Advances in …, 2021 - journals.sagepub.com
Inborn errors of immunity (IEI) are inherited disorders that lead to defects in the development
and/or function of the immune system. The number of disorders that can be treated by …

Wiskott-Aldrich Syndrome (WAS) and dedicator of cytokinesis 8-(DOCK8) deficiency

MH Albert, AF Freeman - Frontiers in Pediatrics, 2019 - frontiersin.org
Both Wiskott-Aldrich syndrome (WAS) and dedicator of cytokinesis 8 (DOCK8) deficiency are
primary immunodeficiency diseases caused by mutations in genes that result in defective …

The child with elevated IgE and infection susceptibility

AF Freeman, JD Milner - Current Allergy and Asthma Reports, 2020 - Springer
Abstract Purpose of Review Over the last 13 years, the genetic etiologies have been
determined for multiple conditions causing elevated serum IgE, infection susceptibilities, and …