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    1 OF 154

    Renal transplantation in patients with pre-existing hypogammaglobulinemia.
    Scand J Immunol 2017 May 22. Epub 2017 May 22.
    Department of Nephrology, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
    Hypogammaglobulinemia is well-characterized as a common phenomenon after kidney transplantation. However, no reports of pre-existing hypogammaglobulinemia from kidney transplantation seem to be available. We have reviewed three patients who developed hypogammaglobulinemia prior to kidney transplantation, and all three were treated successfully with immunoglobulin-replacement therapy before and after kidney transplantation. Read More


    Homozygous TCF3 mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia.
    J Allergy Clin Immunol 2017 May 19. Epub 2017 May 19.
    Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Institut Pasteur de Tunis; Université Tunis El Manar, Tunis, 1068, Tunisia. Electronic address:
    The identification of a homozygous TCF3 gene mutation in a patient presenting with severe hypogammaglobulinemia and acute lymphoblastic leukemia supports the crucial role of this transcription factor in normal B-lymphocyte development. Read More

    B cell repopulation kinetics after rituximab treatment in ANCA-associated vasculitides compared to rheumatoid arthritis, and connective tissue diseases: a longitudinal observational study on 120 patients.
    Arthritis Res Ther 2017 May 18;19(1):101. Epub 2017 May 18.
    Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, Hugstetterstrasse 55, 79106, Freiburg, Germany.
    Background: B cell depletion with rituximab (RTX) is approved for treatment of rheumatoid arthritis (RA) and ANCA-associated vasculitides (AAV). Recently, RTX has been shown to be effective in AAV maintenance therapy, but an optimal RTX treatment schedule is unknown and the time to B cell repopulation after RTX has not been studied.

    Methods: Retrospective single-center analysis of B cell repopulation in patients with AAV, RA or connective tissue disease (CTD) treated with RTX. Read More

    Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
    Am J Med Genet A 2017 May 17. Epub 2017 May 17.
    Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
    The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay. Read More

    Clinical, Immunological, Molecular Analyses and Outcomes of Iranian Patients with LRBA Deficiency: A Longitudinal Study.
    Pediatr Allergy Immunol 2017 May 17. Epub 2017 May 17.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
    Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy.

    Methods: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. Read More

    Multicentric Castleman disease of hyaline vascular variant presenting with unusual systemic manifestations: a case report.
    J Med Case Rep 2017 May 14;11(1):135. Epub 2017 May 14.
    Department of Medicine, Teaching Hospital Kandy, Kandy, Sri Lanka.
    Background: Castleman disease is a rare lymphoproliferative disorder presenting with localized or disseminated lymphadenopathy and systemic manifestations. It can be categorized in numerous ways, such as unicentric versus multicentric, histopathological variants (hyaline-vascular, plasma cell, and mixed), or subtypes based on causative viral infections (human immunodeficiency virus, human herpesvirus-8, or Kaposi sarcoma herpesvirus). Presentation ranges from asymptomatic to symptoms involving multiple organs. Read More

    CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia.
    J Allergy Clin Immunol Pract 2017 May 10. Epub 2017 May 10.
    Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Necker Medical School, Paris, France; INSERM UMR1163, Imagine Institute, Paris Descartes University, Paris, France. Electronic address:

    A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation.
    Pan Afr Med J 2017 23;26:89. Epub 2017 Feb 23.
    Tuberculosis Department, Moulay Youssef University Hospital, Rabat, Maroc.
    Primary intestinal lymphangiectasia (Waldmann's disease) is an exudative enteropathy characterized by lymph leakage into the small bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia (particularly T-cell). The diagnosis is based on viewing the duodenal lymphangiectasia. A 20 years old female patient, treated for a primary intestinal lymphangiectasia, has consulted for anasarca. Read More

    Recurrent infections in a patient with psoriatic arthritis and hypogammaglobulinemia, treated with conventional and biologic disease-modifying anti-rheumatic drugs-a primary or secondary entity?
    Clin Rheumatol 2017 May 9. Epub 2017 May 9.
    Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, Warsaw, Poland.
    A 54-year-old man with confirmed psoriatic arthritis, treated with conventional and biologic disease-modifying anti-rheumatic drugs, suffered from severe, recurrent respiratory tract infections. He was found to have hypogammaglobulinemia. Further investigations confirmed the diagnosis of common variable immunodeficiency. Read More

    [Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].
    Zhonghua Er Ke Za Zhi 2017 May;55(5):377-382
    Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders. Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.
    Objective: To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1). Method: Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. Read More

    Defective IL-4 signaling in T cells defines severe common variable immunodeficiency.
    J Autoimmun 2017 May 2. Epub 2017 May 2.
    Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway; K.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Center, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Electronic address:
    Common variable immunodeficiency (CVID) is defined by hypogammaglobulinemia and B-cell dysfunction, with significant clinical and immunological heterogeneity. Severe non-infectious complications, such as autoimmunity, granulomatous disease and splenomegaly, constitute a major cause of morbidity in CVID patients. T cells are generally regarded important for development of these clinical features. Read More

    A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID syndrome in a patient with a novel NFKB2 mutation.
    J Clin Endocrinol Metab 2017 May 3. Epub 2017 May 3.
    Division of Allergy, Immunology & Rheumatology, Departments of Pediatrics, Stanford University School of Medicine, Stanford, California.
    Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID. Read More

    Serum IgG and risk of exacerbations and hospitalizations in chronic obstructive pulmonary disease.
    J Allergy Clin Immunol 2017 Apr 27. Epub 2017 Apr 27.
    Centre for Heart Lung Innovation, St Paul's Hospital, & the Department of Medicine (Division of Respiratory Medicine), University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

    Thymoma with immunodeficiency/Good syndrome associated with myasthenia gravis.
    Rinsho Shinkeigaku 2017 Apr 27. Epub 2017 Apr 27.
    Departments of Pathology, International University of Health and Welfare Hospital, Tochigi, Japan.
    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia; it is characterized by repeated respiratory or systemic infections caused by bacteria, viruses, and fungi, as well as with various autoimmune disorders such as pure red cell aplasia. A 65-year-old woman was admitted to our hospital with ptosis and abdominal muscle weakness. Based on the presence of anti-acetylcholine receptor (Ach-R) antibodies, she was diagnosed with myasthenia gravis (MG). Read More

    Reference values for B-cell surface markers and co-receptors associated with primary immune deficiencies in healthy Turkish children.
    Int J Immunopathol Pharmacol 2017 Apr 1:394632017707609. Epub 2017 Apr 1.
    Department of Pediatric Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.
    In order to evaluate B-lymphocyte subsets of patients with primary immunodeficiencies, the normal values for national healthy children have to be used as a reference. Recently, B-cell co-receptor markers (CD19, CD21, and CD81) and CD20, CD22, and CD27 deficiencies have been reported in relation with different primary immunodeficiency diseases. The objective of this study was to establish national reference values for B-lymphocyte co-receptors and some surface markers, CD20, CD22, CD27, as well as classic lymphocyte subsets in the peripheral blood of healthy children. Read More

    A national survey of screening and management of hypogammaglobulinemia in Canadian transplantation centers.
    Transpl Infect Dis 2017 Apr 18. Epub 2017 Apr 18.
    Clinical Epidemiology Program, The Ottawa Hospital Research Institute, Ottawa, ON, Canada.
    Background: Infection remains one of the most common transplant-related causes of death in patients undergoing transplantation. Secondary hypogammaglobulinemia (HGG) as a component of immune suppression and deficiency is associated with both solid organ transplantation (SOT) and hematopoietic cell transplantation (HCT). Available data and clinical experience for the supplementation of immunoglobulin (Ig) in these patients is conflicting, and differing clinical opinion accounts for non-uniform practice in the use of Ig treatment. Read More

    The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement.
    PLoS One 2017 19;12(4):e0175961. Epub 2017 Apr 19.
    Department of Molecular Medicine, Sapienza University of Rome, Roma, Italy.
    The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes and PMN had a normal expression of receptors involved in the activation and cellular responses. We demonstrate that BTK is not required for migration, phagocytosis and the production of reactive oxygen species (ROS) following engagement of FC gamma receptors (FcγR). Read More

    Rituximab for immunologic renal disease: What the nephrologist needs to know.
    Autoimmun Rev 2017 Jun 13;16(6):633-643. Epub 2017 Apr 13.
    Vasculitis and Lupus Clinic, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK.
    Rituximab (RTX), a chimeric, monoclonal anti-CD20 antibody, is increasingly used in immune-mediated renal diseases. While licensed in the induction treatment of ANCA-associated vasculitis, it represents one of the most commonly prescribed off-label drugs. Much of the information regarding its safety has been drawn from experience in hematology and rheumatology. Read More

    DRUG-INDUCED ORAL ULCERATIONS: CASE REPORT.
    Acta Clin Croat 2016 Jun;55(2):334-7
    A 70-year-old patient was admitted to the Department of Oral Medicine for multiple oral ulcerations on the left buccal mucosa, around 0.5 cm in diameter, as well as on the gingiva. Otherwise, the patient suffered from chronic lymphocytic leukemia, hypogammaglobulinemia, chronic renal insufficiency, with complete afunction of the right kidney, asthma, hypertension, gastritis and prostate hyperplasia. Read More

    [Severe hepatitis with hypogammaglobulinaemia IgA of non-alcoholic origin].
    Rev Med Liege 2017 Feb;72(2):64-67
    Service de Gastroentérologie, CHR Verviers, Belgique.
    This clinical case describes a severe liver insufficiency associated with an IgA hypergammaglobulinaemia. The search for an etiology excluded all classical causes of hepatopathy and led to the diagnosis of celiac disease. Liver impairment improved with a gluten-free diet. Read More

    Host virus and pneumococcus-specific immune responses in high-count monoclonal B-cell lymphocytosis and chronic lymphocytic leukemia: implications for disease progression.
    Haematologica 2017 Apr 6. Epub 2017 Apr 6.
    Cancer Research Centre (IBMCC, USAL-CSIC), Dep. of Medicine and Cytometry Service, Salamanca, Spain.
    Patients diagnosed with chronic lymphocytic leukemia display a high incidence of infections due to an associated immunodeficiency that includes hypogammaglobulinemia. A higher risk of infections has also been recently reported for high-count monoclonal B-cell lymphocytosis, while no information is available in low-count monoclonal B-cell lymphocytosis. Here, we evaluated the status of the humoral immune system in patients with chronic lymphocytic leukemia (n=58), as well as in low- (n=71) and high-count (n=29) monoclonal B-cell lymphocytosis vs. Read More

    Pure Red Cell Aplasia Associated with Good Syndrome.
    Korean J Thorac Cardiovasc Surg 2017 Apr 5;50(2):119-122. Epub 2017 Apr 5.
    Department of Thoracic Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
    Pure red cell aplasia (PRCA) and hypogammaglobulinemia are paraneoplastic syndromes that are rarer than myasthenia gravis in patients with thymoma. Good syndrome coexisting with PRCA is an extremely rare pathology. We report the case of a 50-year-old man with thymoma and PRCA associated with Good syndrome who achieved complete PRCA remission after thymectomy and postoperative immunosuppressive therapy, and provide a review of the pertinent literature. Read More

    Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient.
    Rev Esp Enferm Dig 2017 May;109(5):385-388
    Centre Hospitalier Universitaire de Dijon.
    Primary intestinal lymphangiectasia or Waldmann's disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and non-erosive gastrointestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure. Read More

    A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association.
    Rheumatol Int 2017 Apr 1. Epub 2017 Apr 1.
    Allergy-Immunology Unit, Advanced Pediatrics Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
    An association of X-linked agammaglobulinemia (XLA) with Kawasaki disease (KD) is very uncommon. Only two case reports are available so far in pediatric literature. Patients with XLA have recurrent infections and physical examination have absent lymph nodes and tonsils. Read More

    [Thymoma and autoimmune diseases].
    Rev Med Interne 2017 Mar 29. Epub 2017 Mar 29.
    Service de médecine interne, hospices civils de Lyon, hôpital de la Croix-Rousse, université Claude-Bernard - Lyon 1, 103, grande rue de la Croix-Rousse, 69004 Lyon, France.
    The association between thymoma and autoimmunity is well known. Besides myasthenia gravis, which is found in 15 to 20% of patients with thymoma, other autoimmune diseases have been reported: erythroblastopenia, systemic lupus erythematosus, inflammatory myopathies, thyroid disorders, Isaac's syndrome or Good's syndrome. More anecdotally, Morvan's syndrome, limbic encephalitis, other autoimmune cytopenias, autoimmune hepatitis, and bullous skin diseases (pemphigus, lichen) have been reported. Read More

    Receptor-guided 3D-QSAR studies, molecular dynamics simulation and free energy calculations of Btk kinase inhibitors.
    BMC Syst Biol 2017 Mar 14;11(Suppl 2). Epub 2017 Mar 14.
    Department of Biomedical Sciences, College of Medicine, Chosun University, 375 Seosuk-dong, Dong-gu, Gwangju, 61452, Republic of Korea.
    Background: Bruton tyrosine kinase (Btk) plays an important role in B-cell development, differentiation, and signaling. It is also found be in involved in male immunodeficiency disease such as X-linked agammaglobulinemia (XLA). Btk is considered as a potential therapeutic target for treating autoimmune diseases and hematological malignancies. Read More

    Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels.
    Clin Immunol 2017 Mar 25;180:1-4. Epub 2017 Mar 25.
    Department of Translational Medical Sciences, Allergy and Clinical Immunology, University of Naples Federico II, Naples, Italy.
    Common variable immunodeficiency disorders (CVID) represent a collection of diseases leading to an absent or strongly impaired antibody production. CVID presents a wide range of immunological abnormalities and clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies. The aim of this observational study was to analyze the epidemiological and clinical features of a cohort of 75 Italian CVID patients, and evaluate the correlation with comorbidity and mortality. Read More

    [Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].
    Rev Med Interne 2017 May 27;38(5):337-339. Epub 2017 Mar 27.
    Service de gynécologie-obstétrique, CHU de Nancy, 10, avenue Dr-Heydenreich, 54000 Nancy, France.
    Introduction: Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections.

    Case Report: We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. Read More

    Tyrosine kinase inhibitor therapy-induced changes in humoral immunity in patients with chronic myeloid leukemia.
    J Cancer Res Clin Oncol 2017 Mar 23. Epub 2017 Mar 23.
    Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, Haartmaninkatu 8, 00290, Helsinki, Finland.
    Purpose: Tyrosine kinase inhibitors (TKIs) have well-characterized immunomodulatory effects on T and NK cells, but the effects on the humoral immunity are less well known. In this project, we studied TKI-induced changes in B cell-mediated immunity.

    Methods: We collected peripheral blood (PB) and bone marrow (BM) samples from chronic myeloid leukemia (CML) patients before and during first-line imatinib (n = 20), dasatinib (n = 16), nilotinib (n = 8), and bosutinib (n = 12) treatment. Read More

    New developments in the management of Waldenström macroglobulinemia.
    Cancer Manag Res 2017 10;9:73-83. Epub 2017 Mar 10.
    Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA; Division of Hematology, Mayo Clinic, Rochester, MN, USA.
    Waldenström macroglobulinemia (WM) is a rare, immunoglobulin M -associated lymphoplasmacytic lymphoma. With the recent discoveries of CXCR warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) and MYD88 mutations, our understanding of the biology of WM has expanded substantially. While WM still remains incurable, the field is rapidly evolving, and a number of promising agents with significant activity in this malignancy are being evaluated currently. Read More

    Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children.
    J Clin Immunol 2017 Apr 21;37(3):311-318. Epub 2017 Mar 21.
    Division of Basic and Clinical Immunology, University of California, Irvine, CA, USA.
    Patients with primary antibody deficiency (PAD) are being increasingly diagnosed in the developing world. However, care of these children continues to remain suboptimal due to financial and social constraints. Immunoglobulin (Ig) trough level is an important predicting factor for infections in children on replacement immunoglobulin therapy. Read More

    X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.
    J Pak Med Assoc 2017 Mar;67(3):471-473
    Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
    X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Read More

    Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations.
    J Clin Immunol 2017 Apr 16;37(3):295-300. Epub 2017 Mar 16.
    Soroka University Medical Center, 84101, Beer-Sheva, Israel.
    Purpose: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. Read More

    Bronchiectasis following treatment for high-risk neuroblastoma: A case series.
    Pediatr Blood Cancer 2017 Mar 10. Epub 2017 Mar 10.
    Department of Paediatric Oncology, Bristol Children's Hospital, Bristol, UK.
    High-risk (HR) neuroblastoma remains a very challenging disease to treat and long-term cure is only possible with intensive, multimodal treatment including chemotherapy, high-dose therapy, radiotherapy, surgery, and immunotherapy. As a result, treatment-related morbidity and late effects are common in survivors. This report outlines a case series of six patients who developed a chronic productive cough following treatment for HR neuroblastoma. Read More

    Clinical relevance of hypogammaglobulinemia, clinical and biologic variables on the infection risk and outcome of patients with stage A chronic lymphocytic leukemia.
    Leuk Res 2017 Feb 27;57:65-71. Epub 2017 Feb 27.
    Hematology Section, Cosenza Hospital, Cosenza, Italy.
    The prognostic effect of hypogammaglobulinemia (HGG), clinical and biologic characteristics on the infection risk and outcome has been retrospectively analyzed in 899 patients with stage A chronic lymphocytic leukemia (CLL). Low levels of IgG were recorded in 19.9% of patients at presentation, low levels of IgM and/or IgA in 10. Read More

    Abnormality of regulatory T cells in common variable immunodeficiency.
    Cell Immunol 2017 May 29;315:11-17. Epub 2016 Dec 29.
    Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
    Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies (PAD) which is defined by recurrent infections, hypogammaglobulinemia and defects in B-cell differentiation into plasma cells and memory B cells. T cell abnormalities have also been described in CVID patients. Several studies reported that Treg frequencies and their functional characteristics are disturbed and might account for the aberrant immune responses observed in CVID patients. Read More

    Antibody-Independent Function of Human B Cells Contributes to Antifungal T Cell Responses.
    J Immunol 2017 Apr 8;198(8):3245-3254. Epub 2017 Mar 8.
    Neuroimmunology Unit, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada;
    Fungal infections (e.g., Candida albicans) can manifest as serious medical illnesses, especially in the elderly and immune-compromised hosts. Read More

    Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
    J Pediatr Hematol Oncol 2017 May;39(4):e203-e206
    *Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus †Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia.
    Background: X-linked lymphoproliferative disease type I (XLP I) is caused by mutations in the SH2D1A gene and characterized mainly by hypogammaglobulinemia and abnormal response to Epstein-Barr virus with a high predisposition to B-cell non-Hodgkin lymphoma development.

    Observations: In this article, we describe the experience of 2 centers in Belarus and in Russia that follow 3 male patients who were diagnosed with XLP I after lymphoma development and treatment. Three novel mutations c. Read More

    Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center.
    Arch Med Sci 2017 Mar 1;13(2):412-417. Epub 2016 Jun 1.
    Department of Pediatrics, Medical University, Bialystok, Poland.
    Introduction: Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA individuals. Read More

    Thymoma-associated multi-organ autoimmunity: A case of graft-versus-host disease-like erythroderma complicated by Good syndrome successfully treated by thymectomy.
    J Dermatol 2017 Mar 3. Epub 2017 Mar 3.
    Department of Dermatology, Hiratsuka City Hospital, Kanagawa, Japan.
    Thymoma-associated multi-organ autoimmunity disease (TAMA) is a rare paraneoplastic disorder, clinicopathologically similar to graft-versus-host disease (GVHD). Many reported cases follow a difficult course; half of them die from serious infectious diseases subsequent to immunosuppression induced by chemotherapy for unresectable thymoma, or intensive therapies including systemic steroids for complicating autoimmune diseases and GVHD-like symptoms. We report a patient whose skin symptoms were improved subsequently to total thymectomy. Read More

    Diagnostic and therapeutic considerations in patients with hypogammaglobulinemia after rituximab therapy.
    Curr Opin Rheumatol 2017 May;29(3):228-233
    aDivision of Rheumatology, Department of Internal Medicine bDivision of Allergy and Immunology, Departments of Internal Medicine and Pediatrics and Communicable Diseases, University of Michigan, Michigan, USA.
    Purpose Of Review: There are no established guidelines for evaluating and treating hypogammaglobulinemia in patients with rheumatic disease who receive B-cell depleting agents. The purpose of this article is to review findings in the work-up and treatment of common variable immunodeficiency (CVID) that can guide our evaluation of patients with autoimmune disease who develop hypogammaglobulinemia after rituximab/B-cell depleting therapy.

    Recent Findings: Infection rates are higher in rheumatic disease patients who develop hypogammaglobulinemia than those who do not. Read More

    Primary immunodeficiency diseases in Northern Iran.
    Allergol Immunopathol (Madr) 2017 May - Jun;45(3):244-250. Epub 2017 Feb 22.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA. Electronic address:
    Introduction: Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders, characterised by recurrent severe infections, autoimmunity and lymphoproliferation. Despite impressive progress in identification of novel PID, there is an unfortunate lack of awareness among physicians in identification of patients with PID, especially in non-capital cities of countries worldwide.

    Result: This study was performed in a single-centre paediatric hospital in Northern Iran during a 21-year period (1994-2015). Read More

    Gastrointestinal Manifestations in X-linked Agammaglobulinemia.
    J Clin Immunol 2017 Apr 24;37(3):287-294. Epub 2017 Feb 24.
    Massachusetts General Hospital, Boston, MA, USA.
    Purpose: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored.

    Methods: We present a case report of a family with two affected patients with XLA. Read More

    Acute Rejection of a Kidney Transplant in a Patient With Common Variable Immunodeficiency: A Case Report.
    Transplant Proc 2017 Mar;49(2):380-385
    Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, Tennessee, USA. Electronic address:
    Common variable immunodeficiency is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. We report a case of a 44-year-old male patient with end-stage renal disease and an established diagnosis of common variable immunodeficiency who underwent a living unrelated kidney transplant. He remained nearly infection free on maintenance immunoglobulin replacement. Read More

    Human NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase.
    J Allergy Clin Immunol 2017 Feb 16. Epub 2017 Feb 16.
    Interfaculty Institute for Cell Biology, Department of Immunology, University of Tübingen, Tübingen, Germany. Electronic address:
    Background: The Nod-like receptor NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) and Bruton tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively. NLRP3 senses exogenous and endogenous insults, leading to inflammasome activation, which occurs spontaneously in patients with Muckle-Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date, few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified, and clinically promising pharmacologic targeting strategies remain elusive. Read More

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