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Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.

January 20, 2021 By Manish Butte

Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.

J Clin Immunol. 2021 Jan 18;:

Authors: Alonso L, Méndez-Echevarría A, Rudilla F, Mozo Y, Soler-Palacin P, Sisinni L, Bueno D, Riviere J, de Paz R, Sánchez-Zapardiel E, Querol S, Rodriguez-Pena R, López-Granados E, Gimeno R, Díaz de Heredia C, Pérez-Martínez A

Abstract
PURPOSE: Use of adoptive immunotherapy with virus-specific T cells (VST) in patients with inborn errors of immunity prior to hematopoietic stem cell transplantation (HSCT) has been reported in few patients. We report our experience, reviewing all the cases previously reported.
METHODS: We report four children with inborn errors of immunity who received VST infusion in a pre-HSCT setting in two reference centers in Spain and review all inborn errors of immunity cases previously reported.
RESULTS: Taking into account our four cases, nine children have been reported to receive VST prior to HSCT to date: 3 severe combined immunodeficiency, 2 CTPS1 deficiency, 1 dyskeratosis congenital, 1 ORAI1 deficiency, 1 Rothmund-Thomson syndrome, and 1 combined immunodeficiency without confirmed genetic defect. In four patients, immunotherapy resulted in clinical improvement, allowing to proceed to HSCT. In these cases, the infusion was started closely to viral diagnosis [mean time 28 days (IQR; 17-52 days)], and the VST was followed shortly thereafter by HSCT [mean time 28 days (IQR; 10-99 days)]. Viremia was controlled after HSCT in two cases (performed 7 and 36 days after the infusion). Multiple infusions were required in many cases. Five out of nine patients died before receiving HSCT. These patients presented with a prolonged and uncontrolled infection before VST administration [mean time from viral diagnosis to VST infusion was 176 days (IQR; 54-1687)].
CONCLUSIONS: In patients with inborn errors of immunity, the efficacy of VST for treating disseminated viral infections in pre-transplant settings seems to have a limited efficacy. However, this therapy could be used in a pre-emptive setting before severe viral disease occurs or closely to HSCT.

PMID: 33462728 [PubMed – as supplied by publisher]

Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

January 20, 2021 By Manish Butte

Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

Brain Dev. 2021 Feb;43(2):357-359

Authors: Theophanous C, Santoro JD, Itani R

Abstract
Bell’s palsy is an acute facial paralysis with known association to viral infections. We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial droop and positive SARS-CoV-2 RT-PCR. This is the first reported pediatric case of Bell’s palsy in the setting of SARS-CoV-2 infection.

PMID: 32950319 [PubMed – indexed for MEDLINE]

Multidrug-resistant Salmonella enterica serovar London carrying blaNDM-1 encoding plasmid from Singapore.

January 20, 2021 By Manish Butte

Multidrug-resistant Salmonella enterica serovar London carrying blaNDM-1 encoding plasmid from Singapore.

Clin Microbiol Infect. 2020 Jul;26(7):963-966

Authors: Octavia S, Chew KL, Chew KL, Lin RTP, Teo JWP

PMID: 32035232 [PubMed – indexed for MEDLINE]

Secondary immune thrombocytopenia in children: characteristics and outcome of a large cohort from two Spanish Centers.

January 20, 2021 By Manish Butte

Secondary immune thrombocytopenia in children: characteristics and outcome of a large cohort from two Spanish Centers.

Acta Paediatr. 2021 Jan 18;:

Authors: Berrueco R, Sebastián E, Solsona M, González de Pablo J, Ruiz-Llobet A, Mesegué M, Gálvez E, Sevilla J

Abstract
AIM: to evaluate the incidence and outcome of secondary Immune thrombocytopenia (ITP) in a large cohort of pediatric Spanish patients.
METHODS: a retrospective observational study was conducted in two pediatric University hospitals in Spain between 2009 and 2019, which included children from 4 months to 18-year-old diagnosed with ITP. Data were recorded from clinical charts: gender, age at diagnosis, coexisting condition and associated characteristics, outcome and treatment.
RESULTS: Secondary ITP was diagnosed in 87 out of 442 patients (19.6%). Post immunization ITP was seen in younger children. The onset of secondary ITP to autoimmune diseases (AD) and immunodeficiencies (ID) was at an older age, had more tendency to be insidious, and platelet level was higher than primary ITP. Mean time from ITP onset to AD diseases or ID diagnosis was 1.2 and 2.6 years respectively. Whereas the cumulative incidence of remission was significantly higher in post immunization and post viral infection (compared to primary ITP patients), it was worse in AD and ID patients.
CONCLUSIONS: Identification of secondary ITP is important as it predicts outcome. Most of them are diagnosed at ITP onset, but AD diseases and ID should be ruled out periodically as they are usually identified later.

PMID: 33460494 [PubMed – as supplied by publisher]

More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.

January 20, 2021 By Manish Butte

More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.

Br J Haematol. 2020 Oct;191(2):291-294

Authors: Saettini F, L’Imperio V, Fazio G, Cazzaniga G, Mazza C, Moroni I, Badolato R, Biondi A, Corti P

PMID: 33460031 [PubMed – in process]

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.

January 20, 2021 By Manish Butte

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.

J Clin Immunol. 2021 Jan 18;:

Authors: Erdős M, Lányi Á, Balázs G, Casanova JL, Boisson B, Maródi L

PMID: 33459963 [PubMed – as supplied by publisher]

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.

January 20, 2021 By Manish Butte

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.

Endocr Metab Immune Disord Drug Targets. 2021 Jan 14;:

Authors: Safarirad M, Ganji AA, Fekrvand S, Yazdani R, Motlagh AV, Abolhassani H, Aghamohammadi A

Abstract
Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

PMID: 33459250 [PubMed – as supplied by publisher]

Vaccination in children with chronic severe neutropenia – review of recommendations and a practical approach.

January 20, 2021 By Manish Butte

Vaccination in children with chronic severe neutropenia – review of recommendations and a practical approach.

Cent Eur J Immunol. 2020;45(2):202-205

Authors: Janczar S, Zalewska-Szewczyk B, BąBOL-Pokora K, PaŚnik J, Zeman K, MŁynarski W

Abstract
While the management of childhood neutropenia associated with a modifiable factor should be appropriate for the primary cause, there are misconceptions regarding the management of severe congenital neutropenia, immune neutropenia and cases classified as “idiopathic”. Antibiotic prophylaxis or granulocyte-colony stimulating factor (G-CSF) are prescribed by specialists in pediatric hematology or immunology, whereas immunization may be conducted by primary care physicians should clear recommendations by provided. There is a belief that severe neutropenia, as an immunodeficiency, is associated with compromised effectiveness and increased rate of complications of immunization. The immunization might be delayed or omitted, increasing the risk of unnecessary infection. We discuss the available data and recommendations regarding vaccination of children with chronic severe neutropenia. While there are virtually no studies addressing the safety and effectiveness of vaccination in neutropenia, expert opinions provide information on immunization policy in “phagocytic cells defects” or explicitly neutropenia. There are no contraindications for inactivated vaccines in neutropenia. Live bacterial vaccines are contraindicated. While in general the vaccination with live viral vaccines is encouraged, occasionally neutropenia might be associated with defects of adaptive immunity, which would preclude the administration of such vaccines. Although this should be easily phenotypically identified, we propose assessing immunoglobulin levels and performing a low-cost flow cytometry test for major lymphocyte subpopulations to exclude significant defects in adaptive immunity before administration of live viral vaccines to such patients. This can improve the adherence of patients’ guardians and physicians to proposed vaccination policy and the professional and legal safety associated with the procedure.

PMID: 33456332 [PubMed]

Study of selective immunoglobulin A deficiency among Egyptian patients with food allergy.

January 20, 2021 By Manish Butte

Study of selective immunoglobulin A deficiency among Egyptian patients with food allergy.

Cent Eur J Immunol. 2020;45(2):184-188

Authors: Shahin RY, Ali FHA, Melek NAN, Elateef IAA, Attia MY

Abstract
Introduction: IgA deficiency is one of the commonest primary antibody deficiencies. Although many affected individuals could be asymptomatic, selected patients suffer from recurrent mucosal infections, allergies, and autoimmune diseases.
Aim of the study: To investigate the prevalence of IgA deficiency among Egyptian patients with food allergy.
Material and methods: We studied 100 patients (62 males, 38 females; mean age, 28.6 years) with multiple food allergies who were recruited on the basis of adequate immunological assessment by history, skin prick test, and confirmed by open challenge test as well as 50 healthy controls. Measurement of levels of IgE and IgA using ELISA technique were performed for all patients and controls.
Results: Deficiency of IgA was detected in 67% of patients with food allergy. Serum IgA levels were significantly lower among patients with food allergy (67.3 µg/ml; range, 56.7-72.0 µg/ml) as compared to healthy control (78.6 µg/ml; range, 72.8-84 µg/ml). Both IgA and IgE levels were not statistically different between patients with food allergy only and those with combined food and aeroallergen. Among food allergic group, serum IgA levels were inversely correlated with serum IgE levels (r = -0.314, p < 0.001).
Conclusions: Manifestations of atopy, such as food allergy might be a present feature before diagnosis of primary immune deficiency diseases as IgA deficiency.

PMID: 33456329 [PubMed]

Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature.

January 16, 2021 By Manish Butte

Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature.

J Pediatr Hematol Oncol. 2021 Jan 11;:

Authors: Iglesias Cardenas F, Agarwal AM, Vagher J, Maese L, Fluchel M, Afify Z

Abstract
X-linked lymphoproliferative disease type 1 (XLP1) is a primary immunodeficiency disorder caused by pathogenic variants in the SH2D1A gene (SH2 domain containing protein 1A). Patients with XLP1 may present acutely with fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis, and/or B-cell non-Hodgkin lymphoma (B-NHL). We report a boy who developed 2 clonally distinct B-NHL 4 years apart and was found to have previously unrecognized XLP1. The report highlights the importance of clonal analysis and XLP1 testing in males with presumed late recurrences of B-NHL, and the role of allogeneic stem cell transplant (allo-SCT) in XLP1 patients and their affected male relatives.

PMID: 33448720 [PubMed – as supplied by publisher]