Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it

Objective: This minireview gathers the scientific foundations of the literature on genetic errors in the development of the humoral immune system to help pediatricians suspect these defects. Sources: A systemic search using the PubMed MEDLINE database was performed for all Predominantly Antibody Def...

Full description

Bibliographic Details
Main Author:	Maria Marluce dos Santos Vilela
Format:	Article
Language:	English
Published:	Elsevier 2021-03-01
Series:	Jornal de Pediatria
Subjects:	Antibody deficiency Agammaglobulinemia Common variable immunodeficiency Hyper IgM syndrome
Online Access:	http://www.sciencedirect.com/science/article/pii/S0021755720302278

Similar Items

Clinical characteristics and outcomes of primary antibody deficiency: A 20-year follow-up study
by: Hung-Yi Chan, et al.
Published: (2014-06-01)

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults
by: Charlotte A. Slade, et al.
Published: (2018-05-01)

Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease
by: Xihui Chen, et al.
Published: (2021-01-01)

Plasma therapy leads to an increase in functional IgA and IgM concentration in the blood and saliva of a patient with X-linked agammaglobulinemia
by: Jeroen D. Langereis, et al.
Published: (2019-05-01)

Common variable immune deficiency syndrome
by: Ahmed A. El-Masry, et al.
Published: (2014-07-01)

Hyper-IgM Immunodeficiency with Enamel Defects: a Case Report
by: N Rahmani, et al.
Published: (2018-02-01)

High Production of IL-18 by Dendritic Cells Induced by Sera from Patients with Primary Antibody Deficiency
by: Maryam Nourizadeh, et al.
Published: (2007-06-01)

Novel CD40LG Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency
by: Shahnaz Armin, et al.
Published: (2020-05-01)

Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells
by: Emily S. J. Edwards, et al.
Published: (2019-11-01)

Successful Management of Neutropenia in a Patient with CD40 Ligand Deficiency by Immunoglobulin Replacement Therapy
by: Lida Atarod, et al.
Published: (2007-03-01)

Association between neutropenia and IgG antineutrophil antibodies in a case of CD40LG deficiency due to two novel mutations
by: Kristian Assing, et al.
Published: (2020-02-01)

Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?
by: Floriana Giorgio, et al.
Published: (2015-09-01)

Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature
by: Hassan A Hassanein, et al.
Published: (2016-01-01)

Timing of infections in patients with primary immunodeficiencies treated with intravenous immunoglobulin (IVIg)
by: Parwinder K. Gill, et al.
Published: (2018-08-01)

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells
by: Sima Shokri, et al.
Published: (2016-11-01)

Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
by: Aleksandra Szczawińska-Popłonyk, et al.
Published: (2020-11-01)

Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
by: Camilla Heldbjerg Drabe, et al.
Published: (2020-09-01)

Liver abscesses and hyper IgM syndrome
by: Ira Shah, et al.
Published: (2013-01-01)

Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia
by: Anna K. Meyer, et al.
Published: (2019-10-01)

Family Study of Pediatric Patients with Primary Antibody Deficiencies
by: Nima Rezaei, et al.
Published: (2013-12-01)

Neurolisteriosis in a previously asymptomatic patient with serum IgM deficiency: a case report
by: Kostas Patas, et al.
Published: (2020-08-01)

C1q deficiency in activated PI3Kδ syndrome type 2.
by: Kimberly Gilmour, et al.
Published: (2019-11-01)

Onychomadesis in a Patient with Immunoglobulin Class Switch Recombination Deficiency
by: Mojgan Safari, et al.
Published: (2008-03-01)

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
by: Victoria K. Tesch, et al.
Published: (2018-07-01)

A Review of Primary Immune Deficiency Disorders
by: Talin Darian, et al.
Published: (2020-07-01)

Update on Infections in Primary Antibody Deficiencies
by: Yesim Yilmaz Demirdag, et al.
Published: (2021-02-01)

Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency
by: Jana Nechvatalova, et al.
Published: (2017-10-01)

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys
by: Marlena Ewertowska, et al.
Published: (2020-04-01)

Acute Disseminated Encephalomyelitis in a case of Hyper IgM Syndrome
by: Devdeep Mukherjee, et al.
Published: (2014-01-01)

Selective immunoglobulin M deficiency in a patient with celiac disease and recurrent pneumonia
by: Marziyeh Heidarzadeh Arani, et al.
Published: (2021-01-01)

A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases
by: Tábata T. França, et al.
Published: (2018-05-01)

CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication
by: Anh Nguyen Lien Phan, et al.
Published: (2021-08-01)

Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis
by: Christoph B. Geier, et al.
Published: (2018-12-01)

Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies?
by: Marian-Christopher Pott, et al.
Published: (2017-06-01)

TRIAGEM NEONATAL DE IMUNODEFICIÊNCIAS GRAVES COMBINADAS POR MEIO DE TRECS E KRECS: SEGUNDO ESTUDO PILOTO NO BRASIL
by: Marilia Pyles P. Kanegae, et al.

Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity?
by: Rohan Ameratunga, et al.
Published: (2021-07-01)

Hyper-IgM syndrome in a boy with recurrent pneumonia and hepatosplenomegaly
by: Janić Dragana, et al.
Published: (2009-01-01)

Duodenal nodular lymphoid hyperplasia in a patient with IgA deficiency
by: Hanae Ida, et al.
Published: (2020-12-01)

PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT
by: Fernanda Aimée NOBRE, et al.
Published: (2015-10-01)

Update on Hyper IgE syndrome (HIES)
by: Javad Ghaffari, et al.
Published: (2012-02-01)