Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

H Abolhassani, J Chou, W Bainter, CD Platt… - Journal of Allergy and …, 2018 - Elsevier
Background Combined immunodeficiencies (CIDs) are diseases of defective adaptive
immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle …

Combined immunodeficiency: the Middle East experience

W Al-Herz, H Al-Mousa - Journal of allergy and clinical immunology, 2013 - Elsevier
Previous reports about primary immunodeficiency disorders have shown variations in the
frequency and distribution among populations from different ethnic and geographic …

Perspective: application of the American College of Medical Genetics variant interpretation criteria to common variable immunodeficiency disorders

R Ameratunga, C Allan, K Lehnert, ST Woon - Clinical reviews in allergy & …, 2021 - Springer
Common variable immunodeficiency disorders (CVIDs) are rare primary immunodeficiency
diseases (PIDs) mostly associated with late onset antibody failure leading to immune system …

diagnosing common variable immunodeficiency disorder in the era of genome sequencing

R Ameratunga, K Lehnert, ST Woon, D Gillis… - Clinical reviews in …, 2018 - Springer
Common variable immunodeficiency disorders (CVID) are an enigmatic group of often
heritable conditions, which may manifest for the first time in early childhood or as late as the …

Primary antibody deficiency in a tertiary referral hospital: a 30-year experiment.

P Mohammadinejad, S Pourhamdi… - … allergology & clinical …, 2015 - europepmc.org
Background Primary antibody deficiency (PAD) is the most common group of primary
immunodeficiency disorders (PID), with a broad spectrum of clinical features ranging from …

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

[HTML][HTML] Comprehensive genetic results for primary immunodeficiency disorders in a highly consanguineous population

W Al-Herz, J Chou, OM Delmonte… - Frontiers in …, 2019 - frontiersin.org
Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs)
in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait …

Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry

N Mahlaoui, C Picard, P Bach, L Costes… - Journal of Allergy and …, 2019 - jacionline.org
Unsurprisingly, most of the genetic diagnoses were obtained in the last 10 years (see the
Methods section and Fig E1 in this article's Online Repository at www. jacionline. org). The …

Allergic and autoimmune disorders in families with selective IgA deficiency

M Erkoçoğlu, A Metin, A Kaya, C Özcan… - Turkish journal of …, 2017 - journals.tubitak.gov.tr
Background/aim: IgA deficiency is the most common human primary immunodeficiency. The
prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA …

[PDF][PDF] The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

CC Dvorak, E Haddad, RH Buckley, MJ Cowan… - Journal of Allergy and …, 2019 - Elsevier
The genetic landscape of severe combined immunodeficiency in the United States and
Canada in the current era (2010-2018) Page 1 1 The Genetic Landscape of SCID in the US …