The Incidence, Risk Factors, and Outcomes of Acute Kidney Injury in Pediatric Hematopoietic Stem Cell Transplant Recipients.

Introduction: Acute kidney injury (AKI) is a frequent complication after hematopoietic stem cell transplantation (HSCT), with reported incidences ranging from 20-70% within the first 100 days post-transplant. AKI can adversely impact outcomes and survival in this patient population.

Methods: This retrospective study evaluated 110 pediatric patients who underwent HSCT at Mofid Children's Hospital, affiliated with Shahid Beheshti University of Medical Sciences, Tehran, Iran, between 2016-2021.

Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.

Background: Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymphoproliferative immunodeficiencies (ALPID) other than ALPS, inattention to which would increase the delay in diagnosis of the underlying genetic defect and hinder disease-specific treatment.

Materials And Methods: This cross-sectional study recruited patients suffering from ALPID (exclusion of ALPS) with established genetic diagnosis.

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Background: Osteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis).

Immune endotyping and gene expression profile of patients with chronic rhinosinusitis with nasal polyps in the aspirin-exacerbated respiratory disease (AERD) and the non-AERD subgroups.

Background: Chronic Rhinosinusitis (CRS) is a paranasal sinus inflammatory disease and is divided into two subgroups defined as CRS with nasal polyps (CRSwNP) and CRS without nasal polyps (CRSsNP). CRSwNP displays a T helper (Th)2 biased phenotype, and based on sensitivity or tolerance to aspirin or non-steroidal anti-inflammatory drugs (NSAID), is further subdivided into Aspirin-exacerbated respiratory disease (AERD) and non-AERD groups. Considering the challenge of diagnosis and treatment in patients with CRSwNP, particularly the AERD subtype, and the significance of endotyping in these patients, we examined the immune profile and endotyping based on gene expression analysis in the AERD and the non-AERD groups of patients with CRSwNP.

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare clinical syndrome characterized by vulnerability to weakly virulent mycobacterial species, including Bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria.

Objective: We sought to perform a systematic review of the genetic, immunologic, and clinical findings for reported patients with MSMD.

Methods: We searched PubMed, Web of Science, and Scopus databases for publications in English relating to MSMD.

Inborn errors of immunity with kidney and urinary tract disorders: a review.

Human inborn errors of immunity (IEIs), previously referred to as primary immunodeficiency disorders (PIDs), are a heterogeneous spectrum of inherited abnormalities of the immune system with different organ involvement. The number of identified IEIs is rapidly increasing, highlighting the non-negligible role of an interdisciplinary approach in clinical diagnosis. Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and course of disease.

CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report.

Purpose: We present a patient with CARD9 deficiency and allergic bronchopulmonary aspergillosis (ABPA)-like presentation.

Methods: Following medical history taking and routine laboratory investigations, an inborn error of immunity was suspected, and the responsible variant was identified using Whole Exome Sequencing and confirmed by Sanger sequencing.

Results: A 14-year-old Iranian female presented with a history of chest pain, productive cough, dyspnea, malaise, and recurrent fever.

Clinical Course, Therapeutic Management and Outcome of Coronavirus Disease in Patients With Inborn Errors of Immunity: A Retrospective Multicenter Experience From Iran.

Background: Inborn errors of immunity (IEIs) are characterized by defects in the structure and function of the immune system. This study was designed to assess the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on this potentially particularly susceptible group of patients.

Methods: This retrospective cross-sectional study analyzed patients from 3 referral immunodeficiency centers in Iran.

Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome.

Background: STAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity characterized by the classic triad of eczema, frequent opportunistic infections, and elevated serum IgE levels. As a consequence of lung sequels due to repeated infections and impaired tissue healing, patients may require interventional pulmonary procedures.

Method: Four patients with dominant-negative STAT3 mutations who had received interventional pulmonary procedures were enrolled.

Immunological Evaluation of Pediatric Patients with Polyautoimmunity.

Background: Autoimmunity can be the first or predominant manifestation in patients with primary immunodeficiency disorder, also known as inborn errors of immunity (IEI). This study aims to evaluate the immune status of pediatric patients with polyautoimmunity to identify those with underlying immune defects.

Methods: In this cross-sectional study, pediatric patients with polyautoimmunity including at least one confirmed autoimmune endocrine disease were enrolled.

Food allergy masquerading as persistent proteinuria in post-infectious glomerulonephritis: a case report.

Background: Post-infectious glomerulonephritis (PIGN) is one of the most common causes of pediatric acute glomerulonephritis. Immune system dysregulation manifesting as food allergy may predispose PIGN patients to nephrotic-range proteinuria.

Case Presentation: The patient was a 3-year-old male that presented with edema, gross hematuria and reduced urine output following a mild fever, rhinorrhea and lethargy.

Relapse of nephrotic syndrome with unusual thromboembolic event: A case report.

Key Clinical Message: Most children with nephrotic syndrome heal without any sequelae. However, rare life-threatening complications such as thromboembolism may occur in pediatric nephrotic syndrome and should be considered in those with a new-onset neurologic deficit.

Abstract: The thromboembolism (TE) as a complication of nephrotic syndrome (NS) is rare and serious, and may involve renal, cerebral, pulmonary, or peripheral venous and/or arterial thrombosis.

JAGN1 mutation with distinct clinical features; two case reports and literature review.

Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency related to innate and humoral defense mechanisms. This deficiency impairs neutrophil development and function, leading to recurrent infections and facial dysmorphism as phenotypic consequences of severe congenital neutropenia (SCN).

A rare immunological disease, caspase 8 deficiency: case report and literature review.

Background: Caspase-8 is a molecule in the FAS pathway that initiates apoptosis. One of the rarest autoimmune lymphoproliferative syndromes is caspase-8 deficiency. Immunodeficiency, splenomegaly, and lymphadenopathy are the common symptoms of this condition.

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.

TRPM6 is predominantly expressed in the kidney and colon and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis and plays important roles in epithelial magnesium transport and the active magnesium absorption. In this study, we present a 70-day-old Iranian female patient from consanguineous parents with hypomagnesemia and secondary hypocalcemia.

Successful Hematopoietic Stem Cell Transplant in a Patient with Omenn Syndrome: A Case Report.

Omenn syndrome is a rare subtype of severe combined immunodeficiency. Affected patients present recurrent infections, lymphadenopathy, skin eruptions, eosinophilia, hepatosplenomegaly, failure to thrive, and gastrointestinal complications with variable severity. A 3-month-old female infant, born to consanguineous healthy parents, presented with splenomegaly, erythroderma, failure to thrive, and history of recurrent otitis media, hypothyroidism, and Bacille Calmette-Guérin lymphadenitis following Bacille Calmette-Guérin vaccination.

Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.

Background: DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main characteristic of Artemis patients.

The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages.

Purpose: Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell lineage and their development, including impairments in early bone marrow development, class switch recombination (CSR), or terminal B cell differentiation. In this study, we aimed to investigate autoimmunity in monogenic patients with B cell development and differentiation defects.

Methods: Patients with known genetic defects in the B cell development and differentiation were recruited from the Iranian inborn errors of immunity registry.

Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

Congenital sideroblastic anemia is characterized by anemia and intramitochondrial iron accumulation in erythroid precursors that form ring sideroblasts. The most common recessive forms are caused by sequence variations in the ALAS2 and SLC25A38 genes. In patients with transfusion-dependent and pyridoxine- resistant severe congenital sideroblastic anemia, hematopoietic stem celltransplantis the only curative option.

A Single-Centered Cohort Study on Favipiravir Safety and Efficacy in Pediatric Patients with COVID-19.

Background: Coronavirus disease 2019 (COVID-19) affects the pediatric population.

Objectives: Due to limited data, this study aimed to evaluate the safety and efficacy of favipiravir in the hospitalized pediatric population diagnosed with COVID-19.

Methods: The present retrospective cohort study was conducted on pediatric patients aged 1 - 18 years with a diagnosis of COVID-19 admitted to Mofid Children's Hospital, Tehran, Iran.

Assessment of early and post COVID-19 vaccination antibody response in healthcare workers: a multicentre cross-sectional study on inactivated, mRNA and vector-based vaccines.

In this multicentre study, we compared the status of antibody production in healthcare personnel (HCP) before and after vaccination using different brands of COVID-19 vaccines between March 2021 and September 2021. Out of a total of 962 HCP enrolled in our study, the antibody against the S1 domain of SARS-CoV-2 was detected in 48.3%, 95.