8,064 results match your criteria Hypogammaglobulinemia


Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management.

Clin Case Rep 2019 Apr 19;7(4):680-685. Epub 2019 Feb 19.

Internal Medicine Residency Program Brookwood Baptist Health Birmingham Alabama.

Hypermobile type Ehlers-Danlos syndrome (hEDS) is an underdiagnosed connective tissue disorder characterized by generalized joint hypermobility, chronic fatigue, widespread joints pain, and impaired quality of life. Here, we reported the first hEDS complicated by hypogammaglobulinemia. New insights into classification, diagnosis, and proper management of hEDS are also reviewed. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2070
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http://dx.doi.org/10.1002/ccr3.2070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452458PMC
April 2019
6 Reads

Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein (LRBA) deficiency: a systematic review.

J Allergy Clin Immunol Pract 2019 Apr 14. Epub 2019 Apr 14.

Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran. Electronic address:

Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the LRBA gene. These mutations usually abrogate the protein expression of LRBA, leading to a broad spectrum of clinical phenotypes including autoimmunity, chronic diarrhea, hypogammaglobulinemia and recurrent infections.

Objective: Our aim was to systematically collect all studies reporting on the clinical manifestations, molecular and laboratory findings, and management of patients with LRBA deficiency. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.04.011DOI Listing

Biological secondary contributors to osteoporosis in fractured patients, is an early systematic assay relevant?

Joint Bone Spine 2019 Apr 9. Epub 2019 Apr 9.

Rheumatology Department, Cochin Hospital, 75014 Paris, France; INSERM U1153, 75014 Paris France. Electronic address:

Objective: To evaluate the prevalence of biological abnormalities leading to secondary osteoporosis in recently fractured patients.

Methods: Adults older than 50, hospitalized for a nonvertebral fracture from July 2015 to October 2016, were assessed for bone fragility contributors in the Orthopedics Department. Bone mineral density (BMD) measurements and Vertebral Fracture assessment (VFA) were performed within 3 months. Read More

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http://dx.doi.org/10.1016/j.jbspin.2019.03.009DOI Listing
April 2019
1 Read

Common variable immunodeficiency patients display elevated plasma levels of granulocyte activation markers elastase and myeloperoxidase.

Int J Immunopathol Pharmacol 2019 Jan-Dec;33:2058738419843381

1 Department of Clinical Immunology and Allergology, St. Anne's University Hospital, Brno, Czech Republic.

Common variable immunodeficiency disorders (CVIDs) represent a group of primary immunodeficiency diseases characterized by hypogammaglobulinemia and dysfunctional immune response to invading pathogens. Previous studies have indicated that CVID is associated with microbial translocation and systemic myeloid cell activation. The goal of this study was to determine whether patients with CVID display elevated systemic levels of markers of granulocyte activation and whether the levels are further influenced by intravenous immunoglobulin (IVIg) infusions. Read More

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http://dx.doi.org/10.1177/2058738419843381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458674PMC
April 2019
1 Read

Lifelong immunoglobulin replacement is not always necessary: A case description of a patient with recurrent infections and hypogammaglobulinemia.

Int J Immunopathol Pharmacol 2019 Jan-Dec;33:2058738419843364

5 Jan Biziel University Hospital No. 2, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Bydgoszcz, Poland.

Humoral immunodeficiency with accompanying infections is an indication for human immunoglobulin replacement therapy. Whether treatment will be lifelong or necessary only temporarily depends on the nature of deficiency: primary (persistent) or secondary (persistent or transient). It is not always easy to distinguish between primary and secondary immunodeficiency, especially in adults. Read More

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http://dx.doi.org/10.1177/2058738419843364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458662PMC
April 2019
1 Read

The Many Gaps in Our Knowledge of the Etiology, Pathogenesis, Complications, and Prognosis of Hypogammaglobulinemia and Common Variable Immune Deficiency.

J Allergy Clin Immunol Pract 2019 Apr;7(4):1285-1286

Department of Medicine, Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, Ala. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.01.027DOI Listing
April 2019
2 Reads

Chronic Benign CD8+ Proliferation: A Rare Affection that Can Mimic a Lymphoma Relapse.

Case Rep Hematol 2019 5;2019:4932616. Epub 2019 Mar 5.

Department of Molecular Biology and Genetics, University Hospital Brno, Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic.

Chronic benign CD8+ proliferation is a rare syndrome that can take the form of a variety of other diseases. Peripheral adenopathy, cytopenia, and infiltration of the liver, kidneys, bowels, or other organs are the most common clinical presentations of the syndrome. CD8+ expansion can be clonal and nonclonal. Read More

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http://dx.doi.org/10.1155/2019/4932616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425407PMC
March 2019
4 Reads

Severe Facial Herpes Vegetans and Viremia in -Deficient Common Variable Immunodeficiency.

Front Pediatr 2019 19;7:61. Epub 2019 Mar 19.

Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, United States.

With the accessibility of next-generation sequencing modalities, an increasing number of primary immunodeficiency disorders (PIDDs) such as common variable immunodeficiency (CVID) have gained improved understanding of molecular pathogenesis and disease phenotype with the identification of a genetic etiology. We report a patient with early-onset CVID due to an autosomal dominant loss-of-function mutation in who developed a severe herpes vegetans cutaneous infection as well as concurrent herpes simplex virus viremia. The case highlights features of CVID, unique aspects of NF-κB2 deficiency including susceptibility to herpesvirus infections, the detection of neutralizing anticytokine antibodies, and the complexity of medical management of patients with a PIDD that can be aided by a known genetic diagnosis. Read More

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http://dx.doi.org/10.3389/fped.2019.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433840PMC
March 2019
2 Reads

Clinical outcomes of polyvalent immunoglobulin use in solid organ transplant recipients: a systematic review and meta-analysis Part I: Kidney Transplant.

Clin Transplant 2019 Apr 2:e13560. Epub 2019 Apr 2.

Division of General Internal Medicine, Department of Medicine, University of Ottawa.

Polyvalent immunoglobulin is commonly used for desensitization and treatment of antibody-mediated rejection in kidney transplantation but its impact on other outcomes is not known. This systematic review investigated the impact of immunoglobulin prophylaxis on infection, rejection, graft loss and death following kidney transplantation. A comprehensive literature search located 18 studies (n=8 randomized controlled trials). Read More

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http://dx.doi.org/10.1111/ctr.13560DOI Listing
April 2019
2 Reads

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.

World Allergy Organ J 2019 22;12(3):100018. Epub 2019 Mar 22.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19394551193010
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http://dx.doi.org/10.1016/j.waojou.2019.100018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439403PMC
March 2019
3 Reads

Genetics in community-acquired pneumonia.

Curr Opin Pulm Med 2019 May;25(3):323-329

Department of Sciences, University College Roosevelt, Middelburg.

Purpose Of Review: Host defense against community-acquired pneumonia depends on an intact innate and acquired immune system. This review analyses the correlation between specific defects and polymorphisms of immunity genes with susceptibility for pneumonia.

Recent Findings: Mutations in BTK, Bruton's tyrosine kinase, lead to X-linked agammaglobulinemia, a disease characterized by recurrent respiratory tract infections, including pneumonia. Read More

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http://dx.doi.org/10.1097/MCP.0000000000000580DOI Listing
May 2019
7 Reads

Treatment of antibody immunodeficiency.

Authors:
Jiří Litzman

Vnitr Lek 2019 ;65(2):126-130

The basis of treatment of patients with hypogammaglobulinemia, primary or secondary, is immunoglobulin replacement. Current immunoglobulin derivates contain highly purified IgG from healthy human donors. Intravenous or subcutaneous route are almost exclusively used at present. Read More

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January 2019
1 Read

Primary immunodeficiencies in adults.

Authors:
Jiří Litzman

Vnitr Lek 2019 ;65(2):109-116

In contrast to general opinion, the issue of primary immunodeficiency is far from just a pediatric medicine; a large number of patients with primary immunodefciencies are not only treated, but also diagnosed in adulthood. The most important manifestation of these diseases are serious, unusual or ill-treatable infections. Some primary immune deficiency diseases manifest themselves in adulthood - mainly common variable immunodeficiency (CVID) and Goods syndrome (hypogammaglobulinemia with thymoma). Read More

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January 2019
1 Read

Castleman Disease in a Patient with Common Variable Immunodeficiency.

Case Reports Immunol 2019 14;2019:5476383. Epub 2019 Feb 14.

Peritoneal Surface Malignancy and Soft Tissue Sarcoma Program, Messina University Medical School Hospital, Messina, Italy.

Common variable immunodeficiency (CVID) is a primary immunodeficiency due to a disorder of the adaptive immune system which causes hypogammaglobulinemia and therefore an increased susceptibility to infection; noninfectious, inflammatory conditions including systemic autoimmunity and lymphoproliferative complications are also commonly associated with CVID. Castleman disease (CD) is a systemic disease clinically characterized by diffuse lymphadenopathy, splenomegaly, anemia, and systemic inflammatory symptoms. This makes CD a great mimicker of more common benign and malignant masses in the neck, chest, abdomen, and pelvis. Read More

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http://dx.doi.org/10.1155/2019/5476383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393918PMC
February 2019
2 Reads

Cytomegalovirus Colitis in Primary Hypogammaglobulinemia With Normal CD4+ T Cells: Deficiency of CMV-Specific CD8+ T Cells.

Front Immunol 2019 7;10:399. Epub 2019 Mar 7.

Program in Primary Immunodeficiency and Aging, Division of Basic and Clinical Immunology, Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies, University of California, Irvine, Irvine, CA, United States.

CMV colitis has been reported in immunocompromized patients with severe deficiency of CD4+ T cells and T cell functions. In this study we present an extensive immunological analysis in a patient with primary hypogammaglobulinemia and CMV colitis who had normal numbers of CD3+T, CD4+T and CD8+T cells, and normal T cell proliferative responses to mitogens and recall antigens. Naïve (T), central (T), and effector (T) memory subsets of CD4+ and CD8+ T cells, Granzyme+ and Perforin+ CD8+ T cells, PD-1+ T cells, CD4 Treg, CD8 Treg, and CMV tetramer specific CD8+ T cells were analyzed with specific antibodies and isotype controls using multicolor flow cytometry. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416218PMC
March 2019
1 Read

Cost-utility analysis comparing hospital-based intravenous immunoglobulin with home-based subcutaneous immunoglobulin in patients with secondary immunodeficiency.

Vox Sang 2019 Apr 18;114(3):237-246. Epub 2019 Mar 18.

Menzies Health Institute Queensland, Griffith University, Nathan, QLD, Australia.

Background And Objective: Immunoglobulin replacement therapy (IRT) is often used to support patients with primary immunodeficiency disease (PID) and secondary immunodeficiency disease (SID). Home-based subcutaneous immunoglobulin (SCIg) is reported to be a cheaper and more efficient option compared to hospital-based intravenous immunoglobulin (IVIg) for PID. In contrast, there is little information on the cost-effectiveness of IRT in SID. Read More

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http://dx.doi.org/10.1111/vox.12760DOI Listing
April 2019
2 Reads

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation.

Infez Med 2019 Mar;27(1):73-76

Infectious Disease Unit, Istituto Giannina Gaslini, University of Genoa, Italy.

Agammaglobulinemia is a congenital deficit of humoral immunity characterized by a decreased level or complete absence of immunoglobulins and profound reduction of B-lymphocytes associated with an increased risk of life-threatening bacterial infection. We report a case of invasive Pseudomonas aeruginosa severe skin and soft tissue infection treated with vacuum-assisted closure and antibiotics in a toddler with a previously unreported mutation of the Bruton tyrosin kinase gene. Read More

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March 2019
3 Reads

Pediatric Survivorship: Considerations Following CAR T-Cell Therapy.

Clin J Oncol Nurs 2019 Apr;23(2):35-41

Children's Hospital of Philadelphia.

Background: This article presents an overview of pediatric relapsed and refractory acute lymphoblastic leukemia (ALL) and chimeric antigen receptor (CAR) T-cell therapy in pediatric patients.

Objectives: Acute and chronic post-CAR T-cell effects and considerations are discussed, along with survivorship considerations.

Methods: A case study illustrates the identification and management of physiologic and psychosocial sequelae. Read More

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http://dx.doi.org/10.1188/19.CJON.S1.35-41DOI Listing
April 2019
2 Reads

Adult Survivorship: Considerations Following CAR T-Cell Therapy.

Clin J Oncol Nurs 2019 Apr;23(2):42-48

University of Texas MD Anderson Cancer Center.

Background: Significant improvement in overall survival observed in patients on clinical trials and U.S. Food and Drug Administration approval of two chimeric antigen receptor (CAR) T-cell therapies have resulted in an increasing population of survivors who have undergone this therapy. Read More

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http://dx.doi.org/10.1188/19.CJON.S1.42-48DOI Listing
April 2019
3 Reads

ABO-Incompatible Kidney Transplantation: Low Rates of Infectious Complications and Excellent Patient Survival.

Transplant Proc 2019 Mar 4;51(2):512-516. Epub 2019 Jan 4.

King Faisal Specialist Hospital & Research Center, Department of Kidney and Pancreas Transplant, Riyadh, Saudi Arabia. Electronic address:

Background: A significant gap exists between demand and supply of organs for patients with end-stage renal disease. To increase the donor pool, kidney transplantation is performed across ABO- and HLA-incompatible barriers. ABO-incompatible kidney transplant (ABOi-KT) recipients are at increased risk of antibody-mediated rejection, infection, and mortality. Read More

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http://dx.doi.org/10.1016/j.transproceed.2019.01.002DOI Listing
March 2019
3 Reads

Adenovirus in solid organ transplant recipients: Guidelines from the American Society of Transplantation Infectious Diseases Community of Practice.

Clin Transplant 2019 Mar 12:e13527. Epub 2019 Mar 12.

Division of Infectious Diseases, David Geffen School of Medicine, Los Angeles, California.

These updated guidelines from the Infectious Diseases Community of Practice of the American Society of Transplantation review the diagnosis, prevention, and management of adenovirus infections after solid organ transplantation. Adenovirus is an important cause of infectious complications in both stem cell transplant and SOT patients, causing a range of clinical syndromes including pneumonitis, colitis, and disseminated disease. The current update of the guidelines highlights that adenovirus surveillance testing should not be performed in asymptomatic recipients. Read More

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http://dx.doi.org/10.1111/ctr.13527DOI Listing
March 2019
2 Reads

Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy.

J Pediatr 2019 Mar 7. Epub 2019 Mar 7.

Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai, China.

Objectives: To examine the phenotypes and perform next-generation sequencing in children with early-onset protein-losing enteropathy.

Study Design: We performed a retrospective review of 27 children with early-onset protein-losing enteropathy. Patients were characterized on clinical, immunologic, and systemic involvements. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.12.003DOI Listing
March 2019
1 Read

Immunoglobulin replacement for secondary immunodeficiency after B-cell targeted therapies in autoimmune rheumatic disease: Systematic literature review.

Autoimmun Rev 2019 May 4;18(5):535-541. Epub 2019 Mar 4.

Frimley Health NHS Foundation Trust, Portsmouth Rd, Frimley, UK. Electronic address:

Background: Consensus guidelines are not available for the use of immunoglobulin replacement therapy (IGRT) in patients developing iatrogenic secondary antibody deficiency following B-cell targeted therapy (BCTT) in autoimmune rheumatic disease.

Objectives: To evaluate the role of IGRT to manage hypogammaglobulinemia following BCTT in autoimmune rheumatic disease (AIRD).

Methods: Using an agreed search string we performed a systematic literature search on Medline with Pubmed as vendor. Read More

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http://dx.doi.org/10.1016/j.autrev.2019.03.010DOI Listing
May 2019
1 Read
7.933 Impact Factor

End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency.

Clin Nephrol Case Stud 2019 1;7:1-6. Epub 2019 Feb 1.

Division of Pediatric Nephrology, Department of Pediatrics.

Background: Anti-glomerular basement membrane (GBM) disease is caused by autoantibodies against the α3-chain of type IV collagen in the GBM. Common variable immunodeficiency (CVID) is a primary immunodeficiency manifested by hypogammaglobulinemia, inability to make functional antibody, and recurrent infections. This report extends the phenotype of CVID-associated autoimmune diseases to include anti-GBM disease. Read More

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http://dx.doi.org/10.5414/CNCS109510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374989PMC
February 2019
2 Reads

Pediatric cutaneous mastocytosis and mutation screening.

Allergy Asthma Proc 2019 Mar;40(2):123-128

From the Pediatric Allergy and Clinical Immunology Department, Health Science University Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.

Cutaneous mastocytosis (CM) is a heterogeneous disease that commonly presents with skin lesions in childhood. In this study, we aimed to evaluate the clinical and laboratory test results of our patients with CM to ascertain prognostic factors by using patients' long-term follow-up results and to determine c-KIT (receptor tyrosine kinase) mutation from peripheral blood samples, which might be responsible for the etiopathogenesis of pediatric mastocytosis. The clinical observation data of 32 children who had been diagnosed with CM were retrospectively researched. Read More

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http://dx.doi.org/10.2500/aap.2019.40.4201DOI Listing
March 2019
10 Reads

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Orphanet J Rare Dis 2019 Feb 28;14(1):61. Epub 2019 Feb 28.

Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy.

Background: Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytopenia and myelokathexis which is caused by heterozygous gain of functions mutations of the CXC chemokine receptor 4 (CXCR4). WHIM patients display an increased incidence of non-hematopoietic conditions, such as congenital heart disease suggesting that abnormal CXCR4 may put these patients at increased risk of congenital anomalies. Studies conducted on CXCR4 and SDF-1-deficient mice have demonstrated the role of CXCR4 signaling in neuronal cell migration and brain development. Read More

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http://dx.doi.org/10.1186/s13023-019-1030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396443PMC
February 2019
3 Reads

Current clinical practice and challenges in the management of secondary immunodeficiency in hematological malignancies.

Eur J Haematol 2019 Feb 22. Epub 2019 Feb 22.

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Objective: Despite long-standing safe and effective use of immunoglobulin replacement therapy (IgRT) in primary immunodeficiency, clinical data on IgRT in patients with secondary immunodeficiency (SID) due to B-cell lymphoproliferative diseases are limited. Here, we examine the correlation between approved IgRT indications, treatment recommendations, and clinical practice in SID.

Methods: An international online survey of 230 physicians responsible for the diagnosis of SID and the prescription of IgRT in patients with hematological malignancies was conducted. Read More

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http://dx.doi.org/10.1111/ejh.13223DOI Listing
February 2019
2 Reads

The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management.

Front Immunol 2019 8;10:33. Epub 2019 Feb 8.

Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.

Antibody deficiency or hypogammaglobulinemia can have primary or secondary etiologies. Primary antibody deficiency (PAD) is the result of intrinsic genetic defects, whereas secondary antibody deficiency may arise as a consequence of underlying conditions or medication use. On a global level, malnutrition, HIV, and malaria are major causes of secondary immunodeficiency. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376447PMC
February 2019
2 Reads

The level of myeloid-derived suppressor cells positively correlates with regulatory T cells in the blood of children with transient hypogammaglobulinaemia of infancy.

Cent Eur J Immunol 2018 31;43(4):413-420. Epub 2018 Dec 31.

Department of Clinical Immunology, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.

Introduction: Transient hypogammaglobulinaemia of infancy (THI) is a primary immunodeficiency characterised by low levels of immunoglobulin G (often with concomitant decrease of IgA and sometimes also of IgM) with still unknown exact reason. A delayed normalisation of the immunoglobulin level in THI may be associated with a transiently elevated number of regulatory T cells (Treg). Although in cancer and chronic inflammation it was shown that the level of Treg cells can be increased by myeloid-derived suppressor cells (MDSCs), until now no studies have been performed in the context of the role of MDSCs in THI and their correlation with Treg cells. Read More

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http://dx.doi.org/10.5114/ceji.2018.81359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384417PMC
December 2018
2 Reads

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Am J Hum Genet 2019 Mar 14;104(3):422-438. Epub 2019 Feb 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408318PMC
March 2019
3 Reads
10.931 Impact Factor

The investigation of Strongyloides stercoralis seroprevalence in immunosupressed patients in Turkey

Turk J Med Sci 2019 Feb 11;49(1):16-19. Epub 2019 Feb 11.

Background/aim: In immunosuppressed patients, strongyloidiasis can be lifethreatening because of hyperinfection or dissemination. Therefore, diagnosis of S. stercoralis is important in immunosuppressed patients with chronic strongyloidiasis. Read More

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http://dx.doi.org/10.3906/sag-1804-16DOI Listing
February 2019
1 Read

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical manifestations, Diagnosis, Classification and Management.

J Investig Allergol Clin Immunol 2019 Feb 11. Epub 2019 Feb 11.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children´s Medical Center, Tehran University of Medical Science, Tehran, Iran.

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency with a wide variety of infectious and non-infectious complications. Numerous studies demonstrated that different immunological and genetic defects are involved in the pathogenesis of CVID. Read More

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http://dx.doi.org/10.18176/jiaci.0388DOI Listing
February 2019
2 Reads
2.642 Impact Factor

[Multiple myeloma associated with a secondary amyloidosis. Report of one case].

Rev Med Chil 2018 Nov;146(11):1351-1355

Servicio de Análisis Clínicos, Hospital Universitario Dr. Peset, Valencia, España.

Multiple Myeloma is a myeloproliferative disorder of plasma cells, which may be complicated with secondary amyloidosis. We report a 48 year old woman consulting to primary care for weight loss and malaise. An initial laboratory study revealed a hypogammaglobulinemia with a monoclonal component and lambda light chains. Read More

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http://dx.doi.org/10.4067/S0034-98872018001101351DOI Listing
November 2018
5 Reads

British Society for Immunology/United Kingdom Primary Immunodeficiency Network consensus statement on managing non-infectious complications of common variable immunodeficiency disorders.

Clin Exp Immunol 2019 Feb 6. Epub 2019 Feb 6.

Department of Immunology, The Royal London Hospital, Barts Health NHS Trust, London, UK.

Common variable immunodeficiency (CVID) represents a heterogeneous group of rare disorders. There is considerable morbidity and mortality as a result of non-infectious complications, and this presents clinicians with management challenges. Clinical guidelines to support the management of CVID are urgently required. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cei.13272
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http://dx.doi.org/10.1111/cei.13272DOI Listing
February 2019
11 Reads

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Front Pediatr 2018 21;6:426. Epub 2019 Jan 21.

Immunodeficiencies Research Unit at the National Institute of Pediatrics (INP), Mexico City, Mexico.

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Read More

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http://dx.doi.org/10.3389/fped.2018.00426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348249PMC
January 2019
19 Reads

An essential role for the Zn transporter ZIP7 in B cell development.

Nat Immunol 2019 03 4;20(3):350-361. Epub 2019 Feb 4.

Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

Despite the known importance of zinc for human immunity, molecular insights into its roles have remained limited. Here we report a novel autosomal recessive disease characterized by absent B cells, agammaglobulinemia and early onset infections in five unrelated families. The immunodeficiency results from hypomorphic mutations of SLC39A7, which encodes the endoplasmic reticulum-to-cytoplasm zinc transporter ZIP7. Read More

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http://www.nature.com/articles/s41590-018-0295-8
Publisher Site
http://dx.doi.org/10.1038/s41590-018-0295-8DOI Listing
March 2019
38 Reads

Long term outcome of WHIM syndrome in 18 patients: high risk of lung disease and HPV-related malignancies.

J Allergy Clin Immunol Pract 2019 Feb 1. Epub 2019 Feb 1.

the Department of Pediatrics & Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia & Asst Spedali Civili of Brescia, Brescia.

Background: In the Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) syndrome variable phenotypic expression may delay diagnosis. Panleukopenia, malignancy and chronic lung disease all affect morbidity and mortality risks. Routinely used treatments include immunoglobulins, granulocyte-colony stimulating factor (G-CSF) and antibiotics; recent trials with a target CXCR4 antagonist show promising results. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.01.045DOI Listing
February 2019
7 Reads

Immunoglobulinopathies in patients with angioimmunoblastic T-cell lymphoma.

Ter Arkh 2018 Aug;90(7):51-56

National Research Center for Hematology, Russian Federation, Moscow, Russia.

Aim: The aim of the study was to characterize quantitative and qualitative immunoglobulinopathies in patients with AITL at the onset of the disease.

Materials And Methods: 55 patients with newly diagnosed AITL were enrolled in the study, the male/female ratio was 30/25; median age was 61 (29-81) years. Diagnosis was based on standard WHO criteria. Read More

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http://dx.doi.org/10.26442/terarkh201890751-56DOI Listing
August 2018
8 Reads

The role of small intestine in pathogenesis of common variable immune deficiency.

Ter Arkh 2018 Feb;90(2):43-46

A.S. Loginov Moscow clinical scientific practical center, Moscow healthcare Department, Moscow, Russia.

AbstractThe article presents the results of examination of 32 patients with common variable immune deficiency (barn) with involvement in the patho- logical process of the digestive system. The features of the clinical picture, the content of immunoglobulins in the blood serum, morphological structure of the mucosa and small intestine as well as treatment. Special attention is paid to the small intestine in the pathogenesis of the barn. Read More

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http://ter-arkhiv.ru/en/archive/2018/vol-90-2-2018/rol-tonko
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http://dx.doi.org/10.26442/terarkh201890243-46DOI Listing
February 2018
8 Reads

Toll-like receptors pathway in common variable immune deficiency (CVID) and X-linked agammaglobulinemia (XLA).

Eur Cytokine Netw 2018 Nov;29(4):153-158

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran, Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two major humoral immunodeficiencies, causing a high rate of early age mortality in children. In order to identifiy the possible factors involved in the pathogenesis of CVID and XLA, recent studies have focused on Toll-like receptors (TLRs) and demonstrate the defects in different TLR pathways in immune cells of CVID and XLA patients. Herein, we measured TLR-4 and TLR-9 RNA levels and consequently TNF-α and IFN-α production in peripheral blood mononuclear cells (PBMCs) of patients with CVID and XLA. Read More

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http://dx.doi.org/10.1684/ecn.2018.0420DOI Listing
November 2018
4 Reads
1.960 Impact Factor

Precursor B-cell development in bone marrow of Good syndrome patients.

Clin Immunol 2019 Mar 25;200:39-42. Epub 2019 Jan 25.

Dept. of Immunology, Erasmus MC, University Medical Center Rotterdam, the Netherlands; Dept. of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

Good syndrome is an immunodeficiency presenting with thymoma, hypogammaglobulinemia and almost absent B cells. To investigate the origin of the B-cell lymphopenia in these patients, we studied B cell differentiation in the bone marrow of Good syndrome patients. We found very low numbers of precursor B cells in bone marrow of Good syndrome patients and a differentiation arrest after the pro-B-cell stage; this is different from other agammaglobulinemia patients with a defect in pre B-cell receptor signaling. Read More

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http://dx.doi.org/10.1016/j.clim.2018.11.009DOI Listing
March 2019
3 Reads

L’émergence des traitements par cellules CAR-T dans les lymphomes.

Bull Cancer 2018 Dec;105 Suppl 2:S168-S177

Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Service d'Hématologie, 69495 Pierre Bénite cedex, France; Université Claude Bernard Lyon-1, 69100 Villeurbanne, France.

Emerging Therapies Using Car-t Cells In Lymphoma: After the promising results obtained in North American academic centers suggesting the curative potential of these treatments, the development of T cells carrying a chimeric antigen receptor (CAR-T) directed against the CD19 antigen has experienced rapid developments in recent years. Three major trials (each involving about 100 patients with relapsed or refractory aggressive B-cell lymphoma) were conducted and evaluated the efficacy of these treatments (Zuma-1, Juliet and Transcend). Tumor responses are observed in 52% to 82% of patients, with a best complete response (CR) rate of 40% to 58%. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00074551193004
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http://dx.doi.org/10.1016/S0007-4551(19)30047-5DOI Listing
December 2018
9 Reads

Traitement par CAR-T des leucémies aiguës de l'adulte.

Bull Cancer 2018 Dec;105 Suppl 2:S158-S167

Unité d'Hématologie Adolescents et Jeunes Adultes, Hôpital Saint-Louis, 75010 Paris, France; EA-3518, Unité de Recherche Clinique Appliquée à l'Hématologie, Institut Universitaire d'Hématologie, Université Paris Diderot, 75010 Paris, France. Electronic address:

Car-t Treatment Of Acute Leukemia In Adults: The prognosis for acute lymphoblastic leukemia (ALL) in adults remains poor in refractory or relapsed (R/R) situations. Among the immunotherapy strategies that have recently been developed, CAR-T cells (chimeric antigen receptor modified T-cells) represent a major technological and therapeutic advance in the management of adult and pediatric patients with such resistant diseases. The first CAR-T trials targeting the ubiquitous B-cell antigen CD19 showed very encouraging results with complete remission rates of approximately 80%. Read More

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http://dx.doi.org/10.1016/S0007-4551(19)30046-3DOI Listing
December 2018
7 Reads

Lower cranial nerve palsy during radiotherapy for glottic cancer in a patient with Wegener's granulomatosis: An interesting case report.

Mol Clin Oncol 2019 Jan 19;10(1):147-152. Epub 2018 Oct 19.

Department of Radiation Oncology, S. Giuseppe Moscati Hospital, I-74100 Taranto, Italy.

The aim of the present study was to report an unusual case of multiple lower cranial nerve palsies in a patient with Wegener's granulomatosis (WG) during radiotherapy for glottic cancer. WG is an autoimmune disease characterized by necrotizing granulomas mainly in the upper and lower respiratory tract or kidneys; however, the involvement of cranial nerves is not uncommon. Prior to the use of cyclophosphamide (CYC) the 1-year mortality rate was ~82%; the introduction of rituximab (RTX) has revolutionized the course of the WG, with remission rates comparable to those of CYC and superior effectiveness in relapsing patients. Read More

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http://dx.doi.org/10.3892/mco.2018.1748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315903PMC
January 2019
8 Reads

Neurological Involvement in Childhood Evans Syndrome.

J Clin Immunol 2019 Feb 22;39(2):171-181. Epub 2019 Jan 22.

Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE), University Hospital of Bordeaux, Bordeaux, France.

Purpose: Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical manifestations, evolution, and PID profiles of these patients. Read More

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http://link.springer.com/10.1007/s10875-019-0594-3
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http://dx.doi.org/10.1007/s10875-019-0594-3DOI Listing
February 2019
8 Reads

IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies.

Authors:
Trine H Mogensen

Front Immunol 2018 8;9:3047. Epub 2019 Jan 8.

Department of Infectious diseases, Aarhus University Hospital, Aarhus, Denmark.

The induction and action of type I interferon (IFN) is of fundamental importance in human immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within the molecular and cellular signaling pathways regulating type I IFN induction and downstream actions have shown the essential role of the IFN regulatory factor (IRF) and the signal transducer and activator of transcription (STAT) families, respectively. However, the exact biological and immunological functions of these factors have been most clearly revealed through the study of inborn errors of immunity and the resultant infectious phenotypes in humans. Read More

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http://dx.doi.org/10.3389/fimmu.2018.03047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331453PMC
January 2019
5 Reads

Neuroborreliosis in a horse with common variable immunodeficiency.

J Vet Diagn Invest 2019 Mar 19;31(2):241-245. Epub 2019 Jan 19.

Departments of Biomedical Sciences, Section of Anatomic Pathology (Pecoraro, Miller, Duhamel), College of Veterinary Medicine, Cornell University, Ithaca, NY.

Common variable immunodeficiency (CVID) is a rare condition in adult horses characterized by hypogammaglobulinemia and increased susceptibility to parasitic and bacterial infections, including recurrent respiratory diseases, septicemia, and meningitis. Lyme disease is often included as a differential diagnosis in CVID horses with signs of meningitis; however, the Borrelia burgdorferi organism has not been demonstrated previously within central nervous system tissues of CVID horses with neurologic disease, to our knowledge. We report herein a case of neuroborreliosis in a CVID horse, confirmed by combined immunologic testing, histopathology, real-time PCR assay, fluorescent in situ hybridization, and immunohistochemical staining. Read More

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http://dx.doi.org/10.1177/1040638718824146DOI Listing
March 2019
2 Reads

Unusual manifestations of visceral leishmaniasis in children: a case series and its spatial dispersion in the western region of São Paulo state, Brazil.

BMC Infect Dis 2019 Jan 18;19(1):70. Epub 2019 Jan 18.

Laboratory of Medical Investigation Unit 56, Hospital das Clınicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

Background: Visceral leishmaniasis (VL) is becoming endemic in São Paulo state, in the southeastern region of Brazil. Unusual manifestations with non-specific signs and symptoms may make diagnosis difficult and delay treatment, increasing the risk of severity and death, particularly in new endemic areas. There are few studies on patients with these characteristics in Brazil. Read More

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http://dx.doi.org/10.1186/s12879-018-3652-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339277PMC
January 2019
17 Reads

Association of Immunoglobulin Levels, Infectious Risk, and Mortality With Rituximab and Hypogammaglobulinemia.

JAMA Netw Open 2018 Nov 2;1(7):e184169. Epub 2018 Nov 2.

Division of Allergy & Immunology, Department of Pediatrics, Massachusetts General Hospital, Boston.

Importance: Rituximab is an anti-CD20 chimeric antibody used in a wide variety of clinical indications. There has not been widespread adoption of consistent immune monitoring before and after rituximab therapy. However, there is a subset of patients who develop prolonged, symptomatic hypogammaglobulinemia following rituximab, and monitoring before and after rituximab therapy could help to identify these patients and initiate measures to prevent excess morbidity and mortality. Read More

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http://dx.doi.org/10.1001/jamanetworkopen.2018.4169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324375PMC
November 2018
17 Reads