Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

Hamza A Alghamdi; Suha A Tashkandi; Eman M Alidrissi; Rawan D Aledielah; Khelad A AlSaidi; Enas S Alharbi; Murad K Habazi; Mofareh S Alzahrani

doi:10.1007/s10875-018-0569-9

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

J Clin Immunol. 2018 Nov;38(8):847-853. doi: 10.1007/s10875-018-0569-9. Epub 2018 Dec 3.

Authors

Hamza A Alghamdi¹, Suha A Tashkandi², Eman M Alidrissi¹, Rawan D Aledielah¹, Khelad A AlSaidi², Enas S Alharbi¹, Murad K Habazi¹, Mofareh S Alzahrani³

Affiliations

¹ Allergy and Immunology Section, Children's Specialized Hospital, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia.
² Cytogenetics Laboratory, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia.
³ Allergy and Immunology Section, Children's Specialized Hospital, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia. msalzahrani@kfmc.med.sa.

PMID: 30511102
DOI: 10.1007/s10875-018-0569-9

No abstract available

Keywords: Antibody deficiency; Centromeric instability; Cytogenetic; DNMT3B; Facial anomalies; HELLS; ICF; Immunodeficiency; Whole-exome sequencing; ZBTB24.

Publication types

Letter

MeSH terms

Agammaglobulinemia
Chromosomal Instability
Cytogenetic Analysis
DNA (Cytosine-5-)-Methyltransferases / genetics
DNA Helicases / genetics
DNA Methyltransferase 3B
Exome Sequencing
Face / abnormalities*
Facial Asymmetry
Humans
Immunoglobulins, Intravenous / therapeutic use
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / therapy
Mutation / genetics*
Pathology, Molecular
Pedigree
Primary Immunodeficiency Diseases
Repressor Proteins / genetics*
Saudi Arabia

Substances

Immunoglobulins, Intravenous
Repressor Proteins
ZBTB24 protein, human
DNA (Cytosine-5-)-Methyltransferases
DNA Helicases
HELLS protein, human

Supplementary concepts

Immunodeficiency syndrome, variable