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conferenceseries
.com
Volume 3
Diagnostic Pathology: Open Access
ISSN: 2476-2024
Laboratory Medicine 2018
June 25-26, 2018
June 25-26, 2018 | Berlin, Germany
13
th
International Conference on
Laboratory Medicine & Pathology
IgG
4
deficiency with gene deletion in down syndrome
Jeraiby M
1
, Lambert C
2
and
Toyraine R
2
1
Department of Medical Biochemistry, Faculty of Medicine, Jazan University, Saudi Arabia
2
Saint-Étienne University Hospital Center, France
Background & Aim:
IgG4 deficiency is more frequent among persons with Down syndrome (DS), without identifying
explanation. The role of IgG4 deficiency which is not fully established for many affected persons in the general population are
asymptomatic. Nevertheless, in the context of DS it may be an important factor in repeated infections and even stroke. The
aim of the present study was to investigate the molecular mechanism of IgG4 deficiency at the level of the heavy chain gene
(IGHG4) gene.
Methodology:
Quantitative real-time polymerase chain reaction (Q-PCR) was carried out to measure IGHG4 copies number
with SYBR Green detection and comparison to a reference gene (36B4). A IGHG4/36B4 ratio was considered normal (2 copies
of IGHG4) when between 0.8 and 1.2. We studied 44 DS persons: 21 males and 23 females from 7 years to 57 years, composed
of 23 DS persons (11 males and 12 females) carrying severe IgG4 deficiency (<0.02 g /L), 5 having an IgG4 level not detectable
and 21 DS subjects (10 males and 11 females) with no IgG4 deficiency (level >0.1 g /L). The patient group was compared with
38 healthy donors (controls) without DS.
Results:
IGHG4 heterozygous deletion was found in 16 (69.6%) DS patients with IgG4 deficiency versus in 2 (9.5%) DS
subjects without IgG4 deficiency (p=0.0001 with Yates correction) in the control group, no deletion was seen.
Conclusions:
IGHG4 haploinsufficiency is highly correlated to IgG4 deficiency in our population with DS, but other factors
exist that needs to be identified.
Biography
Jeraiby M has completed his Residency Program in Medical Biology (MD) at Saint-Étienne University Hospital Center, France. He is currently an Assistant
Professor in Medical Biochemistry, Faculty of Medicine, Jazan University, Kingdom of Saudi Arabia. He has published more than 7 papers in international journals
and has been serving as a Reviewer in clinical case report journal.
mojer2011@hotmail.comJeraiby M et al., Diagn Pathol Open 2018, Volume 3
DOI: 10.4172/2476-2024-C1-003