The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management

R Yazdani, S Fekrvand, S Shahkarami, G Azizi… - Clinical …, 2019 - Elsevier
Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …

B cells defined by immunoglobulin isotypes

LK James - Clinical and Experimental Immunology, 2022 - academic.oup.com
The ability of B cells to generate antibodies and provide long-lived protective immunity is the
cornerstone of vaccination and has contributed to the success of modern medicine. The nine …

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 …

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 …

Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis

H Abolhassani, F Kiaee, M Tavakol… - Journal of clinical …, 2018 - Springer
Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

H Fan, L Huang, D Yang, C Zhang, Q Zeng, G Yin, G Lu… - BMC pediatrics, 2022 - Springer
Background X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency
syndrome caused by mutations in the CD40 ligand gene (CD40LG), presents with recurrent …

Comparison of common monogenic defects in a large predominantly antibody deficiency cohort

R Yazdani, H Abolhassani, F Kiaee, S Habibi… - The Journal of Allergy …, 2019 - Elsevier
Background Predominantly antibody deficiencies (PADs) are the most common primary
immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate …

Cryptococcal meningitis and post-infectious inflammatory response syndrome in a patient with X-linked hyper IgM syndrome: a case report and review of the literature

L Romani, PR Williamson, S Di Cesare… - Frontiers in …, 2021 - frontiersin.org
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked
Hyper IgM syndrome (HIGM), due to a gene defect in CD40L, is the commonest variant; it is …

Clinical features and genetic analysis of 20 Chinese patients with X‐linked hyper‐IgM syndrome

LL Wang, W Zhou, W Zhao, ZQ Tian… - Journal of …, 2014 - Wiley Online Library
X‐linked hyper‐IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases,
resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively …

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 …