Manish Butte

Primary Immunodeficiency Diseases Presenting with Chalazia as the First Manifestation.

Ocul Immunol Inflamm. 2020 Aug 24;:1-3

Authors: Nieves-Moreno M, Granados M, Noval S

Abstract
PURPOSE: Ocular manifestations in primary immunodeficiency diseases are rare, but they can be the initial manifestation. This can lead to the prompt diagnosis and treatment of the disease and achieve a reduction of severe systemic complications.
CASE REPORT: We present two cases where a recurrent giant chalazion was the symptom that led to the diagnosis and early treatment of a patient with X-linked chronic granulomatous disease (CGD), and a patient with hyperimmunoglobulin E syndrome.
CONCLUSION: Even though chalazia are common and benign, children presenting with recurrent giant chalazia or torpid evolution after surgery should be investigated for immunodeficiencies to reduce the severe and potentially fatal complications of the disease.

PMID: 32835554 [PubMed – as supplied by publisher]

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National Survey about awareness of Primary Immunodeficiency Disorders among Primary Care Physicians in Saudi Arabia: Protocol and Challenges.

J Prim Care Community Health. 2020 Jan-Dec;11:2150132720951288

Authors: AlFattani A, Rabhan F, AlAssaf L, Alghammas A, De Vol E

Abstract
INTRODUCTION: Primary Health Care Centers (PHCC) are the first contact health facility to which patients in Saudi Arabia can go to seek help. Primary Immunodeficiency Disorders (PIDD) are of various types and severities, and they are associated with a delay in diagnosis. Early diagnosis of PIDD helps to improve the quality of life of affected children and prevent permanent consequences such as organ damage and disability. In this study, we present a protocol of a national survey that assesses awareness among PHCC physicians about diagnosing PIDD and the challenges associated with the execution of this protocol.
METHODS: This cross-sectional survey used stratified multistage sampling and systematic random selection of PHCC from a list of PHCC affiliated centers under the Ministry of Health (MOH) in Saudi Arabia. The survey was conducted through phone calls to the selected physicians. Data collection started in April 2020, and it is still ongoing.
CONCLUSION: In Saudi Arabia, this study will provide baseline data about PHCC physicians’ levels of awareness of the diagnosis of PIDD. This will help policy-makers in designing educational courses or programs to increase awareness levels among physicians. The protocol could be used to study other health outcomes at a national level.

PMID: 32830618 [PubMed – in process]

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Consensus of the Italian Primary Immunodeficiency Network on Transition Management from Pediatric to Adult Care in Patients Affected with Childhood Onset Inborn Errors of Immunity.

J Allergy Clin Immunol. 2020 Aug 19;:

Authors: Cirillo E, Giardino G, Ricci S, Moschese V, Lougaris V, Conti F, Azzari C, Barzaghi F, Canessa C, Martire B, Badolato R, Dotta L, Soresina A, Cancrini C, Finocchi A, Montin D, Romano R, Amodio A, Ferrua F, Tommasini A, Baselli LA, Dellepiane RM, Polizzi A, Chessa L, Marzollo A, Cicalese M, Putti MC, Pession A, Aiuti A, Locatelli F, Plebani A, Pignata C

Abstract
Medical advances have dramatically improved the long-term prognosis of children and adolescents with Inborn Errors of Immunity (IEIs). Transfer of medical care of individuals with pediatric IEIs to adult facilities is a complex task also for the high number of distinct disorders, that requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult healthcare services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network (IPINet) centers formulated and answered questions after examining the currently published literature on transition from childhood to adulthood. Authors voted on each recommendation. The most frequent IEIs, sharing common main clinical problems requiring full attention during the transitional phase, were categorized into different groups of Clinically Related Disorders (CRD). In each CRD, we focused on selected clinical issues representing the clinical hallmark during early adulthood.

PMID: 32827505 [PubMed – as supplied by publisher]

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[Recurrent respiratory tract infections in children].

Pol Merkur Lekarski. 2020 Aug 22;49(286):260-266

Authors: Pasternak G, Lewandowicz-Uszyńska A, Królak-Olejnik B

Abstract
Respiratory diseases are among the most common disorders found in the clinical practice of every pediatrician. It is estimated that a total of 10-15% of children experience recurrent respiratory tract infections (RRTI). Unfortunately, there is no universal consensus on the definition of recurrent respiratory tract infections in children. In addition, the number of episodes taken into account to define the recurrent nature of infections varies depending on the disease (location of the ongoing infection) and its severity. The most commonly accepted definition is the occurrence of eight or more documented respiratory tract infections per year in preschool children (up to three years old) and six or more in children older than three years, in the absence of any pathological condition underlying recurrent infections. It is very important to select in the group of children suffering from RRTI those who may have primary immunodeficiency. The detailed medical history plays an important role. In cases of positive medical history for immunodeficiency, it is mandatory to conduct a detailed examination of the immune system.

PMID: 32827422 [PubMed – as supplied by publisher]

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A 2020 update on the use of genetic testing for patients with primary immunodeficiency.

Expert Rev Clin Immunol. 2020 Aug 21;:

Authors: Chinn IK, Orange JS

Abstract
INTRODUCTION: Genetic testing of patients with clinically diagnosed or suspected primary immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and patient attributes can impact the likelihood of securing a diagnosis.
AREAS COVERED: Published diagnostic rates for gene panel testing, exome sequencing (WES), and whole genome sequencing are compared among cohorts identified within PubMed. Performance of the testing platforms is reviewed in PIDs taken as a whole, followed by separate cohorts of patients with suspected PIDs, specific PIDs, and clinical phenotypes that can be associated with underlying PIDs.
EXPERT OPINION: Massively parallel high throughput sequencing clearly represents the most expedient method for diagnosis of PIDs. For patients from highly consanguineous backgrounds, WES and whole genome sequencing should be performed to obtain optimal diagnostic yield. For patients for whom familial consanguinity is unlikely, choice of platform depends upon the phenotype. In patients with suspected PIDs, assessment for copy number variants is important, whether as part of gene panel bioinformatic analyses or combined with WES. Diagnostic rates overall for massively parallel sequencing are high for clinically diagnosed and suspected PIDs. WES may have a slightly higher overall yield, but gene panel testing represents a cost effective and efficient reasonable initial step.

PMID: 32822560 [PubMed – as supplied by publisher]

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Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).

J Allergy Clin Immunol Pract. 2020 Aug 17;:

Authors: Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS

Abstract
BACKGROUND: The introduction of newborn screening for severe combined immunodeficiencies (NBS SCID) in 2010 was a significant public health milestone. While SCID was the primary target, several other conditions associated with severe T-cell lymphopenia (TCL) have subsequently been identified as secondary targets. The differential diagnosis in infants with an abnormal TREC result on NBS SCID who do not meet criteria for typical SCID is often broad, and often the evaluation of these conditions requires immunological and functional testing, in conjunction with genetic analysis, to obtain an accurate diagnosis and develop an appropriate management and treatment plan.
OBJECTIVE: We describe here three infants identified by NBS SCID, who required additional work-up as they did not have a typical SCID phenotype and meet the relevant diagnostic criteria. Genetic testing identified pathogenic variants in ATM in all 3 patients, and the pathogenicity of the variants was confirmed by a functional flow cytometry assay.
METHODS: The patients underwent immunological and genetic work-up to identify an underlying cause of their abnormal NBS SCID. AT was suspected based on clinical and family history, and immunological analyses. The diagnosis was confirmed in all patients with a rapid functional flow cytometric assay and genetic testing.
RESULTS: A rapid functional flow cytometry assay was used as a diagnostic and confirmatory tool, in conjunction with genetic testing, to make a diagnosis of AT. Experimental validation of the causal relationship between genotype and phenotype allowed for expeditious diagnosis, which facilitated early discussions with families regarding prognosis, treatment, and management.
CONCLUSION: Even with increased rapidity and access to genetic results, functional testing is required for clinical diagnosis in infants identified by NBS SCID who do not fit into the classic categories or have novel genetic variants to confirm the diagnosis. Consideration should be given to the use of functional assays as an essential component of an integrated evaluation to characterize the genetics and mechanisms of inborn errors of immunity.

PMID: 32818697 [PubMed – as supplied by publisher]

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