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Exp Hematol Oncol 2021 Jun 13;10(1):38. Epub 2021 Jun 13.

Myelodysplastic Syndromes Diagnosis and Therapy Center, Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79# Qingchun Road, Hangzhou, 310003, Zhejiang, China.

Common variable immunodeficiency (CVID) was a kind of primary immunodeficiency disorders with heterogeneous phenotype and genotype. Lipopolysaccharide-responsive and beige-like anchor (LRBA) mutation was identified as disease associated in CVID, advanced genetic method will help to detect atypical cases. We report a case of adult patient manifested as hemophagocytic lymphohistiocytosis (HLH), bone marrow examination suggested prosperity to MDS, manifested as increased immature myeloid cells and dysplastic hematopoiesis. Read More

Joint Bone Spine 2021 Jun 8:105236. Epub 2021 Jun 8.

Department of Medicine, Universitat de Barcelona, Barcelona, Spain; Department of Autoimmune Diseases, ICMiD, Hospital Clinic, Barcelona, Spain. Electronic address:

Objective: To analyze whether immune-mediated diseases (IMDs) occurs in sarcoidosis more commonly than expected in the general population, and how concomitant IMDs influence the clinical presentation of the disease.

Methods: We searched for coexisting IMDs in patients included in the SARCOGEAS-cohort, a multicenter nationwide database of consecutive patients diagnosed according to the ATS/ESC/WASOG criteria. Comparisons were made considering the presence or absence of IMD clustering, and odds ratios (OR) and their 95% confidence intervals (CI) were calculated as the ratio of observed cases of every IMD in the sarcoidosis cohort to the observed cases in the general population. Read More

J Allergy Clin Immunol 2021 Jun 7. Epub 2021 Jun 7.

The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Background: Heterozygous germline mutations in cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently used with variable effectiveness. Read More

J Clin Immunol 2021 Jun 10. Epub 2021 Jun 10.

Assistance Publique - Hôpitaux de Paris (AP-HP), Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.

Purpose: Common variable immunodeficiency (CVID) is known to cause infectious, inflammatory, and autoimmune manifestations. Pulmonary hypertension (PH) is an unusual complication of CVID with largely unknown characteristics and mechanisms.

Methods: We report the clinical, functional, hemodynamics, radiologic and histologic characteristics, and outcomes of CVID-associated PH patients from the French PH Network. Read More

Sci Rep 2021 Jun 9;11(1):12211. Epub 2021 Jun 9.

Department of Immunology, IML and IdSSC, Hospital Clínico San Carlos, Madrid, Spain.

The broad and heterogeneous clinical spectrum that characterizes common variable immunodeficiency (CVID) is associated with quite different disease course and prognosis, highlighting the need to develop tools that predict complications. We developed a multianalyte VISUAL score (variable immunodeficiency score upfront analytical link) aimed to predict severity using individual CVID patient data at baseline of a cohort of 50 CVID patients from two different centers in Portugal and Spain. We retrospectively applied VISUAL to the CVID clinical severity scores proposed by Ameratunga and Grimbacher after 15 years follow-up of our cohort. Read More

Int Arch Allergy Immunol 2021 May 31:1-5. Epub 2021 May 31.

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

Introduction: Inborn errors of immunity (IEIs) are rare inherited disorders with a broad spectrum of manifestations. Here, we aimed to delineate the atopy burden in a cohort of patients with IEIs.

Methods: 313 patients with IEIs were enrolled in the study within a 9-years period, and data were collected via a questionnaire. Read More

Pathog Immun 2021 14;6(1):76-103. Epub 2021 May 14.

Cleveland Clinic, Department of Rheumatic and Immunologic Diseases, Cleveland, Ohio.

Background: The role of humoral immunity has been well established in reducing infection risk and facilitating viral clearance in patients with COVID-19. However, the relationship between specific antibody responses and severity of COVID-19 is less well understood.

Methods: To address this question and identify gaps in knowledge, we utilized the methodology of a scoping review to interrogate risk of infection and clinical outcomes of COVID-19 in patients with iatrogenic and inborn humoral immunodeficiency states based on existing literature. Read More

Front Immunol 2021 14;12:671239. Epub 2021 May 14.

Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czechia.

Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous disorder with inadequate antibody responses and low levels of immunoglobulins including IgA that is involved in the maintenance of the intestinal homeostasis. In this study, we analyzed the taxonomical and functional metagenome of the fecal microbiota and stool metabolome in a cohort of six CVID patients without gastroenterological symptomatology and their healthy housemates. The fecal microbiome of CVID patients contained higher numbers of bacterial species and altered abundance of thirty-four species. Read More

Eur Ann Allergy Clin Immunol 2021 May 28. Epub 2021 May 28.

Division of Allergy, Immunology, and Rheumatology, Rochester Regional Health, Rochester, New York, U.S.A.

Turk J Med Sci 2021 May 23. Epub 2021 May 23.

Background And Aim: Common variable immunodeficiency (CVID) characterized by defective immunoglobulin production is the most prevalent form of symptomatic primary immunodeficiency (PID) in adults. We aimed to reveal the clinical features of adults with CVID and to evaluate the effects of immunoglobulin replacement treatment (IRT) on hemato-immunological findings.

Materials And Methods: This study included 26 adult patients receiving IRT. Read More

BMJ Case Rep 2021 May 20;14(5). Epub 2021 May 20.

Gastroenterology, Apollo Hospitals (AHNM), Navi Mumbai, India.

Common variable immunodeficiency (CVID) causes a chronic debilitating syndrome in affected patients and often leads to high morbidity and mortality. Among its several presentations, chronic enteropathy leading to malabsorption syndrome continues to offer a major diagnostic dilemma. Lately, higher testing for norovirus infection in patients with CVID enteropathy has correlated its presence to chronic diarrhoeas, severe villous atrophy and malabsorption syndromes. Read More

Am J Case Rep 2021 May 20;22:e930966. Epub 2021 May 20.

Department of Pediatrics, Faculty of Medicine, Health Sciences Center, Kuwait University, Jabriya, Kuwait.

BACKGROUND X-linked intellectual disabilities constitute a group of clinically and genetically heterogeneous disorders that are divided into syndromic and nonsyndromic forms. PAK3 mutations are associated with X-linked nonsyndromic forms of intellectual disability, with the most common clinical features being cognitive deficit, large ears, oral motor hypotonia, and neurobehavioral abnormalities. These mutations have been reported to be associated with either loss of the PAK3 protein or loss of its kinase activity. Read More

J Clin Immunol 2021 May 19. Epub 2021 May 19.

Nuffield Department of Medicine and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, OX3 9DU, UK.

Purpose: Common variable immunodeficiency disorders (CVID) is characterized by low/absent serum immunoglobulins and susceptibility to bacterial infection. Patients can develop an infections-only phenotype or a complex disease course with inflammatory, autoimmune, and/or malignant complications. We hypothesized that deficient DNA repair mechanisms may be responsible for the antibody deficiency and susceptibility to inflammation and cancer in some patients. Read More

Clin Exp Immunol 2021 May 18. Epub 2021 May 18.

Section of clinical and laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Lymphadenopathies can be part of the clinical spectrum of several primary immunodeficiencies, including diseases with immune dysregulation, and autoinflammatory disorders, as the clinical expression of benign polyclonal lymphoproliferation, granulomatous disease, or lymphoid malignancy. Lymphadenopathy poses a significant diagnostic dilemma when it represents the first sign of a disorder of the immune system, leading to a consequently delayed diagnosis. Additionally, the finding of lymphadenopathy in a patient with diagnosed immunodeficiency raises the question of the differential diagnosis between benign lymphoproliferation and malignancies. Read More

Front Immunol 2021 27;12:621503. Epub 2021 Apr 27.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

In common variable immunodeficiency (CVID), heterozygous damaging variants represent the most frequent monogenic cause. encodes the precursor p105, which undergoes proteasomal processing to generate the mature NF-κB transcription factor subunit p50. The majority of sequence changes comprises missense variants of uncertain significance (VUS), each requiring functional evaluation to assess causality, particularly in families with multiple affected members presenting with different phenotypes. Read More

BMC Immunol 2021 May 13;22(1):31. Epub 2021 May 13.

Department of Pediatrics, Faculdade de Medicina do ABC/Centro Universitário FMABC, Santo André, Brazil.

Background: Common variable immunodeficiency (CVID) is an inborn errors of immunity, that leads to recurrent chronic infections and autoimmune/ inflammatory diseases and neoplasms. It is considered that these condition is related to persistent this immune-inflammatory stimulation and increased oxidative stress. A positive impact on the survival of patients with an inborn error of immunity was observed with advanced clinical care protocols, thus raising concerns about the risk of developing other associated chronic diseases, such as atherosclerosis. Read More

J Clin Immunol 2021 May 13. Epub 2021 May 13.

Center for Cancer and Immunology Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA.

Immunocompromised patients, including those with inborn errors of immunity (IEI), may be at increased risk for severe or prolonged infections with SARS-CoV-2 (Zhu et al. N Engl J Med. 382:727-33, 2020; Guan et al. Read More

Immun Inflamm Dis 2021 May 12. Epub 2021 May 12.

Trier University, FB VI, Biogeography, Trier, Germany.

Introduction: In patients with common variable immunodeficiency (CVID), immunological response is compromised. Knowledge about COVID-19 in CVID patients is sparse. We, here, synthesize current research addressing the level of threat COVID-19 poses to CVID patients and the best-known treatments. Read More

Radiol Cardiothorac Imaging 2021 Apr 25;3(2):e200418. Epub 2021 Mar 25.

Faculty of Medical Sciences, Universidad Nacional Autónoma de Honduras, Tegucigalpa, Honduras (J.A.R.); Department of Radiology, Division of Cardiopulmonary Imaging, University of Colorado School of Medicine, 12401 E 17th Ave, Aurora, CO 80045 (T.J.B., D.V.); Department of Radiology, University of Texas Health Science Center, San Antonio, Tex (C.S.R.); Department of Radiology, Weill Cornell Medicine, New York, NY (D.B.G.); and Department of Radiology, Children's Hospital Colorado, Aurora, Colo (L.P.B.).

Primary immunodeficiency disorders (PIDs), which are humoral, combined, and innate defects of the immune system, are relatively uncommon and may go undiagnosed in patients experiencing recurrent infections, resulting in increased morbidity and mortality. PIDs are clinically characterized by a broad spectrum of disorders, including repeated infections, autoimmune disorders, lymphoproliferative diseases, congenital anomalies, and increased risk of malignancy. Cardiothoracic imaging plays a crucial role in the diagnosis of PIDs owing to the high rates of repeated respiratory infections leading to bronchiectasis and other forms of chronic lung disease. Read More

Front Immunol 2021 21;12:635482. Epub 2021 Apr 21.

Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.

Z Gesundh Wiss 2021 Apr 26:1-8. Epub 2021 Apr 26.

Stockton University, 101 Vera King Farris Drive, Galloway, NJ 08205 USA.

Aim: The purpose of this survey study was to investigate the impact of Covid-19 on the lives of individuals living with primary immunodeficiency disease (PID).

Subject And Methods: An online survey was distributed through social media to individuals with a diagnosis of PID to investigate behaviors and concerns during the Covid-19 pandemic.

Results: Five hundred and fifty seven responses were collected, of which 495 surveys were 100% complete; partial responses were analyzed. Read More

Front Immunol 2021 15;12:606099. Epub 2021 Apr 15.

Department of Pediatric Immunology and Rheumatology, Wilhelmina Children's Hospital, Utrecht, Netherlands.

Introduction: Besides recurrent infections, a proportion of patients with Common Variable Immunodeficiency Disorders (CVID) may suffer from immune dysregulation such as granulomatous-lymphocytic interstitial lung disease (GLILD). The optimal treatment of this complication is currently unknown. Experienced-based expert opinions have been produced, but a systematic review of published treatment studies is lacking. Read More

Cells 2021 Apr 27;10(5). Epub 2021 Apr 27.

Department of Otorhinolaryngology, Head and Neck Surgery, Saarland University Medical Center, D-66421 Homburg, Germany.

The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in protein biogenesis, calcium (Ca) homeostasis, and signal transduction. Among the roughly one hundred components, which are involved in protein import and protein folding or assembly, two components stand out: The Sec61 complex and BiP. The Sec61 complex in the ER membrane represents the major entry point for precursor polypeptides into the membrane or lumen of the ER and provides a conduit for Ca ions from the ER lumen to the cytosol. Read More

Front Immunol 2021 12;12:677572. Epub 2021 Apr 12.

Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy, and recurrent infections. Although LRBA deficiency is an autosomal recessive primary immunodeficiency resulting in a phenotype similar to CVID, it is a monogenic disease and separate from CVID. Read More

Arch Pathol Lab Med 2021 Apr 27. Epub 2021 Apr 27.

From the Department of Pathology, SUNY Downstate Health Sciences University, Brooklyn, New York.

Context.—: Because granulomas are represented in almost every disease category, the number of clinically and pathologically important granulomatous pulmonary diseases is large. Their diagnosis by pathologists is particularly challenging because of their nonspecificity. Read More

J Asthma 2021 May 8:1-4. Epub 2021 May 8.

The Department of Respiratory Medicine, Cork University Hospital, Cork, Ireland.

Common variable immunodeficiency is characterized by impaired B-cell differentiation and defective immunoglobulin production manifesting as recurrent respiratory tract infections. While the condition can masquerade as asthma, late diagnosis of CVID in known asthmatic is rarely reported.

We present the case of a 43-year-old lady with recurrent episodes of wheeze, cough, sinusitis and multiple lower respiratory tract infections. Read More

Emerg Infect Dis 2021 May;27(5):1513-1516

In 2019, the Public Health Agency of Barcelona, Spain, was notified of a vaccine-derived poliovirus infection. The patient had an underlying common variable immunodeficiency and no signs of acute flaccid paralysis. We describe the ongoing coordinated response to contain the infection, which included compassionate-use treatment with pocapavir. Read More

J Dermatol 2021 Apr 24. Epub 2021 Apr 24.

Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

J Clin Immunol 2021 Apr 19. Epub 2021 Apr 19.

University of Freiburg, Freiburg, Germany.

Purpose: Common variable immune deficiency (CVID) confers an increased risk of lymphoid neoplasms, but reports describing the precise WHO specification of the lymphoma subtypes and their immunological environment are lacking. We therefore classified lymphomas-occurring in a cohort of 21 adult CVID patients during a 17-year period at our center-according to the 2016 WHO classification and characterized the local and systemic immunological context RESULTS: The median time between the onset of CVID and lymphoma was 14 years. Patients showed a high prevalence of preceding immune dysregulation: lymphadenopathy (n = 13, 62%), splenomegaly (n = 18, 86%), autoimmune cytopenia (n = 14, 67%), and gastrointestinal involvement (n = 15, 71%). Read More

Rev Med Interne 2021 Apr 16. Epub 2021 Apr 16.

Service de médecine interne et maladies infectieuses, hôpital Haut-Lévêque, CHU de Bordeaux, 5, avenue de Magellan, 33604 Pessac, France; Université de Bordeaux, Bordeaux, France. Electronic address:

Common variable immunodeficiency disorders (CVID) are a heterogeneous group of conditions with hypogammaglobulinemia as the common denominator. These are the most common symptomatic primary immunodeficiency disorder in adults. Two different clinical forms are described: one group only develops infections, while a second includes (sometimes without infections, at least at the onset of disease course) a variety of non-infectious autoimmune, inflammatory, granulomatous and/or lymphoproliferative manifestations, sometimes revealing the disease and often observed in Internal Medicine. Read More