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Clin Immunol 2022 Jun 21:109067. Epub 2022 Jun 21.

Department of Clinical Genetics, Sultan Qaboos University Hospital, Muscat, Oman; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Background: Severe combined immunodeficiency (SCID) is characterized by severe, early-onset infection in infants. B-cell lymphoma/leukemia (BCL) 10 defects causing SCID have been reported previously in two patients.

Material & Methods: A seven-month-old female infant was admitted with bilateral pneumonia requiring ventilatory support. Read More

Pediatr Nephrol 2022 Jun 24. Epub 2022 Jun 24.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-853, Japan.

Background: Hypogammaglobulinemia is a major adverse effect from rituximab. However, the association between rituximab-induced hypogammaglobulinemia and infection frequency is unknown.

Methods: Patients who received rituximab for complicated nephrotic syndrome between February 2006 and October 2020 were enrolled in this retrospective observational study. Read More

Blood Adv 2022 Jun 23. Epub 2022 Jun 23.

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.

Immune thrombocytopenia (ITP) is an acquired bleeding disorder characterized by IgG-mediated platelet destruction. Current therapies primarily focus on reducing antiplatelet antibodies using immunosuppression or increasing platelet production with TPO mimetics. However, there are no universally safe and effective treatments for patients presenting with severe, life threatening bleeding. Read More

J Clin Immunol 2022 Jun 23. Epub 2022 Jun 23.

Université de Lille, UFR Médecine, 59000, Lille, France.

As protein-losing enteropathy (PLE) can lead to hypogammaglobulinemia and lymphopenia, and since common variable immunodeficiency (CVID) is associated with digestive complications, we wondered if (1) PLE could occur during CVID and (2) specific features could help determine whether a patient with antibody deficiency has CVID, PLE, or both. Eligible patients were thus classified in 3 groups: CVID + PLE (n = 8), CVID-only (= 19), and PLE-only (n = 13). PLE was diagnosed using fecal clearance of α1-antitrypsin or 111In-labeled albumin. Read More

BMJ Case Rep 2022 Jun 22;15(6). Epub 2022 Jun 22.

Pediatrics, Umm Al-Qura University College of Medicine, Makkah, Saudi Arabia

Barth syndrome (BTHS) is an X linked recessive disorder caused by a mutation in the tafazzin (TAZ) gene classically associated with the triad of neutropaenia and cardiac and skeletal myopathies. Here we present a case of BTHS in a 2-month-old male patient found to have a novel variant of the TAZ gene (hemizygous c.639G>A) leading to early termination of the tafazzin protein (p. Read More

Sci Rep 2022 Jun 21;12(1):10416. Epub 2022 Jun 21.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency's and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. Read More

Cureus 2022 May 14;14(5):e24996. Epub 2022 May 14.

Department of Internal Medicine, Umm Al-Qura University, Makkah, SAU.

Good's syndrome is a rare, acquired immunodeficiency condition characterized by thymoma and hypogammaglobulinemia, which increases the risk of recurrent infections. Immunoglobulin replacement therapy (IgRT) is the key treatment for recurrent infections. We describe the case of a 57-year-old male with a history of an anterior mediastinal mass and a persistent cough lasting for a few years. Read More

Case Reports Immunol 2022 10;2022:7313009. Epub 2022 Jun 10.

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. We present a four-year-old Turkish boy who had recurrent respiratory tract infections in the last six months. Read More

Gynecol Oncol Rep 2022 Aug 31;42:101016. Epub 2022 May 31.

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, David Geffen School of Medicine at UCLA, United States.

•Consider immune dysfunction in rapidly progressing soft tissue infections refractory to medical or surgical management.•Vulvar ulcers may rapidly progress to severe complications in patients with immune dysfunction after CAR T-cell therapy.•As CAR T-cell therapy use expands, recognition of unique toxicities is an important consideration. Read More

Front Immunol 2022 27;13:911339. Epub 2022 May 27.

National Institute for Infectious Diseases "Lazzaro Spallanzani" (IRCCS), Rome, Italy.

Introduction: Immunocompromised patients with B-cell depletion agents are at risk for persistence and/or severe SARS-COV-2 infection. We describe a case series of 21 COVID-19 patients under B cell depletion therapy, mostly treated with a combined therapy based on intravenous remdesevir (RDV) and steroid associated with SARS-CoV-2 monoclonal antibodies against Spike glycoprotein and/or hyper-immune convalescent plasma.

Methods: This is a single-center longitudinal study. Read More

Haematologica 2022 06 16. Epub 2022 Jun 16.

Weill Cornell Medicine - Division of Hematology and Medical Oncology, 1300 York Ave. A603A, New York, New York 10065.

This article summarizes our approach to the diagnosis, secondary ITP, and choice of second line options in patients with immune thrombocytopenic (ITP). We very briefly summarize first-line treatment and then utilize a case-based approach. We will first explore persistent-chronic ITP in a younger female. Read More

Ann Palliat Med 2022 May 23. Epub 2022 May 23.

Faculty of Pharmaceutical Society, Fukuyama University, Fukuyama, Japan.

Background: Intravenous immunoglobulin (IVIG) therapy has a reported adjunctive effect in the treatment of sepsis, but in light of results from a large-scale randomized control trial (RCT), evidence for improved prognosis with IVIG therapy is currently deemed insufficient. In recent years, there have been many reports of low serum immunoglobulin G (IgG) as a poor prognostic factor in septic patients. Under Japan's national health insurance system, IVIG is administered for severe infections at a dose of 5 g/day for three days (total 15 g or 0. Read More

J Med Case Rep 2022 Jun 11;16(1):235. Epub 2022 Jun 11.

Department of Allergy and Clinical Immunology, Iran University of Medical Sciences, 1445613131, Tehran, Iran.

Background: Progressive multifocal leukoencephalopathy is a rare demyelinating disease that is often secondary to lytic destruction of oligodendrocytes and, to a lesser extent, to astrocytes' response to human neurotrophic John Cunningham polyomavirus. Any underlying congenital disorder of primary or secondary immunodeficiency may predispose to virus infection and possible invasion of the brain. We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene. Read More

Cell Rep Med 2022 Jun 9;3(6):100653. Epub 2022 Jun 9.

Department of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, MO 63110, USA; The Andrew M. and Jane M. Bursky Center for Human Immunology & Immunotherapy Programs, Washington University School of Medicine, St. Louis, MO 63110, USA; Center for Vaccines and Immunity to Microbial Pathogens, Washington University School of Medicine, Saint Louis, MO 63110, USA. Electronic address:

Individuals with primary antibody deficiency (PAD) syndromes have poor humoral immune responses requiring immunoglobulin replacement therapy. We followed individuals with PAD after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination by evaluating their immunoglobulin replacement products and serum for anti-spike binding, Fcγ receptor (FcγR) binding, and neutralizing activities. The immunoglobulin replacement products tested have low anti-spike and receptor-binding domain (RBD) titers and neutralizing activity. Read More

Rheumatology (Oxford) 2022 Jun 10. Epub 2022 Jun 10.

Department of Rheumatology, Sint Maartenskliniek, Nijmegen, the Netherlands.

Objectives: Rituximab (RTX) is a safe and effective treatment for rheumatoid arthritis (RA). A dose-dependent infection risk was found in the REDO trial. Some studies associate RTX use with higher infection risks, possibly explained by low immunoglobulin levels and/or neutropenia. Read More

PLoS One 2022 9;17(6):e0268780. Epub 2022 Jun 9.

Division of Allergology and clinical Immunology, Department of Pneumology and Allergology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Objectives: Although mRNA-based vaccines against SARS-CoV-2 induce a robust immune response and prevent infections and hospitalizations, there are limited data on the antibody response in individuals with humoral immunodeficiency. The aim of this study was to evaluate the humoral immune response after two vaccine doses with BNT162b2 or mRNA-1273 in patients with humoral immunodeficiency disease.

Methods: This cross-sectional study assessed 39 individuals with hypogammaglobulinemia under immunoglobulin replacement therapy. Read More

Infect Dis Now 2022 Jun 3. Epub 2022 Jun 3.

Department of Internal Medicine, Infectious Diseases and Hematology, Hospital Centre Cornouaille Quimper, France; Department of Nephrology, Hospital Centre Cornouaille Quimper, France; Laboratory, Hospital Centre Cornouaille Quimper, France; Department of Internal Medicine, Infectious Diseases and Hematology, Hospital Centre Bretagne Atlantique Vannes, France; Department of Hematology, Hospital Centre Cornouaille Concarneau, France. Electronic address:

Objectives: The HEMVACO study evaluated the humoral response after mRNA anti-SARS-CoV-2 vaccination in an hematological cohort.

Methods: HEMVACO was a prospective, multicentric study registered in ClinicalTrials.gov, number NCT04852796. Read More

Skin Health Dis 2022 Mar 9;2(1):e98. Epub 2022 Feb 9.

Division of Pediatric Dermatology Johns Hopkins University School of Medicine Baltimore Maryland USA.

Although the exact mechanisms have yet to be elucidated, it is clear that cellular immunity plays a role in clearance of human papillomavirus (HPV) infections as it relates to the development of warts. Patients with extensive, recalcitrant, or treatment-refractory warts may have an underlying immune system impairment at the root of HPV susceptibility. Early recognition of genetic disorders associated with immunologic defects that allow for recalcitrant HPV infection may expedite appropriate treatment for patients. Read More

Cureus 2022 Jun 2;14(6):e25594. Epub 2022 Jun 2.

Gastroenterology, SG Gastro Care, Coimbatore, IND.

Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is one of the common forms of primary immunodeficiency, which primarily affects the respiratory tract, but is often associated with gastrointestinal complications. The pathophysiology is not fully understood, making a diagnosis of CVID difficult. The low levels of IgG and IgA and defective B cells make intravenous immunoglobulin (IVIG) therapy the mainstay of management. Read More

Sci Immunol 2022 Jun 3;7(72):eabn2888. Epub 2022 Jun 3.

Department of Immunology, UT Southwestern Medical Center, Dallas, TX, USA.

The SKIV2L RNA exosome is an evolutionarily conserved RNA degradation complex in the eukaryotes. Mutations in the gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism. Here, we reported a THES patient with mutations showing severe primary B cell immunodeficiency, hypogammaglobulinemia, and kappa-restricted plasma cell dyscrasia but normal T cell and NK cell function. Read More

J Oncol Pharm Pract 2022 Jun 3:10781552221105856. Epub 2022 Jun 3.

Department of Hematology, Faculty of Medicine in 52993Selcuk University, Konya, Turkey.

Introduction: Carbamazepine is an antiepileptic drug used in the treatment of epilepsy, trigeminal neuralgia, and bipolar disorder. Hematological effects that may develop with this anticonvulsant; agranulocytosis, thrombocytopenia, leukopenia, aplastic anemia, eosinophilia, or pancytopenia.

Case Report: In this article, we wanted to present a case diagnosed with acute lymphoblastic leukemia after long-term use of carbamazepine because of epilepsy. Read More

Mol Genet Genomic Med 2022 Jun 2:e1990. Epub 2022 Jun 2.

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Defective Cernunnos gene in nonhomologous end-joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular features of reported patients in the literature.

Case: The patient was a 6-month-old female born to consanguineous parents. Read More

Front Immunol 2022 16;13:878989. Epub 2022 May 16.

Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Background: Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspected. The International Union of Immunological Societies classification lists variants in different genes responsible for so-called Hyper-IgE syndromes. Read More

Clin Exp Immunol 2022 Jan 28. Epub 2022 Jan 28.

Immunology Department, Salford Royal NHS Foundation Trust, Manchester, UK.

In March 2020, the United Kingdom Primary Immunodeficiency Network (UKPIN) established a registry of cases to collate the outcomes of individuals with PID and SID following SARS-CoV-2 infection and treatment. A total of 310 cases of SARS-CoV-2 infection in individuals with PID or SID have now been reported in the UK. The overall mortality within the cohort was 17. Read More

Medicina (B Aires) 2022 ;82(3):361-369

Unidad Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.

Antibody deficiencies (AD) are characterized by low or absent immunoglobulin levels or the inability to develop a specific antibody response. They are classified in primary (PAD) when there is an intrinsic immune defect, or secondary (SAD) to other diseases or drugs. The aim of our study was to review the evolutio n of AD assisted at the Immunology Unit, Hospital Durand between 1982 and 2020, divided into two periods: Period I (1982-2009) and Period II (2010-2020); to evaluate their growth, epidemiologic features and treatment options. Read More

J Clin Rheumatol 2022 May 25. Epub 2022 May 25.

From the Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine.

Objective: The aim of this study was to evaluate incidence rates, prognoses, and disease-related factors associated with poor outcomes in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV) who had coronavirus disease (COVID-19).

Methods: Patients with AAV were questioned for a history of COVID-19 in the outpatient setting. Cumulative clinical findings and treatment history were obtained from the patients' medical records. Read More

Turk J Pediatr 2022 ;64(2):228-238

Division of Immunology and Allergy, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey.

Background: Transient hypogammaglobulinemia of infancy (THI) is a heterogeneous disorder caused by an abnormal delay in reaching normal IgG levels in the first three years of life. Although THI is a common primary immune deficiency, its pathogenesis has not been fully elucidated. We aimed to investigate the role of regulatory T cells (Tregs) and B cells (Bregs) in the pathogenesis of THI. Read More

BMJ Case Rep 2022 May 24;15(5). Epub 2022 May 24.

Department of Medicine, All India Institute of Medical Sciences, New Delhi, India.

A patient, an adolescent male, presented to us with complaints of recurrent respiratory tract infections since childhood. Differentials considered were cystic fibrosis (CF), bronchial asthma with allergic bronchopulmonary aspergillosis (ABPA), primary ciliary dyskinesia (PCD) and primary immunodeficiency disorders. Sweat chloride test, total IgE and specific serum IgE and IgG levels were normal ruling out CF and ABPA. Read More

Front Immunol 2022 3;13:869728. Epub 2022 May 3.

Comprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Lisbon, Portugal.

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Read More