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

Vilela, Maria Marluce dos Santos

doi:10.1016/j.jped.2020.10.010

Cited by 4 publications

(8 citation statements)

References 38 publications

(178 reference statements)

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“…5,6 The spectrum of infections in IEI is one of the main factors for the suspicion of the diagnosis in children during their early years of life, as well as being a parameter for follow-up during the treatment. 4 In this sense, the male patient may have the diagnostic hypothesis for XLA considering when there are recurrent infections during early childhood, a pathological family history positive for PADs, the occurrence of hospitalization before the age of five, and vaccine reaction, especially after vaccination with live attenuated virus. The patient had all these conditions, except for the vaccine reactions.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the confirmation of the diagnosis can be made by genetic testing that confirms variants in the BTK gene, or, if genetic testing is not available, a confirmed family history of XLA. 4 Since it was not possible to confirm the family history, a genetic test should be requested, which identifies, the hemizygosis, in the BTK gene, the variant ChrX:101.356.055 G>T, promoting the substitution of the aspartate amino acid in codon 521 by glutamate (p.Asp521Glu).Based on this confirmation of X-linked agammaglobulinemia, the patient was classified according to the International Classification of Diseases (ICD-10) as D80.0.…”

Section: Discussionmentioning

confidence: 99%

“…This is because BTK is expressed on all hematopoietic cell lines, with the exception of the T cells and plasma cells. 4 In the physical examination of patients with XLA and some IEI, it is common for the tonsils and cervical lymph nodes to be small or even absent. 1 In addition, because of recurrent otitis, otoscopy often shows lesions or perforations of the tympanic membranes.…”

Section: Introductionmentioning

confidence: 99%

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Predominantly antibody deficiency: case report

Morais,

Silva,

Brito

et al. 2023

Rev. Bras. Saude Mater. Infant.

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Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis, abscesses and urinary tract infections. At the age of ten, he presented mastoiditis progressing to meningitis, he was admitted to a tertiary hospital, where an immunological evaluation was performed, which led to the diagnosis of Predominantly Antibody Deficiency (PAD), with suspected X-linked Agammaglobulinemia (XLA). Treatment was initiated with administration of intravenous gamma globulin 400 mg/kg every four weeks, with a significant improvement of the condition. Discussion: usually, the diagnosis of XLA tends to be made in the first three years of life. However, in this report, although the first manifestations started at eight months of age, there was a delay of ten years before starting the treatment. In fact, the diagnosis of children and adults with IEI can be delayed if healthcare professionals are unable to find the true cause of recurrent infections. Therefore, the relevance of considering such pathologies in the presence of risk signs is highlighted, as early diagnosis being essential in treating and preventing morbidities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Predominantly antibody deficiency: case report

Morais,

Silva,

Brito

et al. 2023

Rev. Bras. Saude Mater. Infant.

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“…It is largely established that in selective IgA deficiency (SIgAD), which is the most common pediatric antibody deficiency with incidence rates varying between 1:143 and 1:18,500 ( 18 ), the serum concentration is always less than 7 mg/dL associated with normal serum IgG and IgM levels. As IgA only reaches adult levels later in life, and SIgAD diagnosis can only be confirmed after four years of age ( 19 ).…”

Section: Predominantly Antibody Deficiencymentioning

confidence: 99%

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

et al. 2021

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Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods.

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“…The care of patients with primary immunodeficiencies (PIDs) is a challenge, both for family physicians and specialists, including clinical immunologists. Patients with inborn errors of immunity (IEI) are most commonly found to have humoral immune deficiencies, which, according to some analyses, account for up to 78% of all IEI [ 1 , 2 ]. Patients have an increased susceptibility to infections, autoimmune diseases, allergies and cancer [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

Points to Consider in Health Assessment of Adult Patients with Primary Antibody Deficiencies

Napiórkowska-Baran,

Ziętkiewicz,

Więsik-Szewczyk

et al. 2023

JCM

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An improved recognition of inborn errors of immunity (IEI) is associated with an increase in life expectancy and a higher incidence of complications and related conditions. The aim of the study was to analyze factors enabling the primary prevention: BMI, smoking and selected laboratory tests (morphology with smear, creatinine, eGFR, total protein, albumin, ferritin, folic acid, vitamin B12, vitamin D3) included in the protocols of standard of care for adult patients with primary antibody deficiencies (PADs). The study included 94 participants ≥ 18 years old, diagnosed with PADs. Overweight was found in 17%, obesity in 14% and underweight in 15% of patients; 11.5% of patients smoked. Leukopenia was diagnosed in 16%, neutropenia in 8.5%, lymphopenia in 22.5% and thrombocytopenia in 14% of patients. A decreased concentration of hemoglobin was found in 32%, total protein in 19%, albumin in 17%, vitamin D3 in 52%, vitamin B12 in 6.5%, folic acid in 34% and ferritin in 26% of patients. Creatinine concentrations were elevated in 16% of patients, while in 20%, eGFR was reduced. Only a holistic assessment of comorbidities and complications of deficiency, as well as regular follow-up and lifestyle changes, can yield the best results in the long-term care of patients.

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

Cited by 4 publications

References 38 publications

Predominantly antibody deficiency: case report

Predominantly antibody deficiency: case report

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

Points to Consider in Health Assessment of Adult Patients with Primary Antibody Deficiencies

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