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J Allergy Clin Immunol Pract 2019 Feb 15. Epub 2019 Feb 15.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The European Society for Immunodeficiencies (ESID) registry currently comprises information on >25,000 patients with inborn errors of immunity (IEI). Read More

Front Immunol 2018 29;9:3148. Epub 2019 Jan 29.

Research Institute Hospital 12 Octubre (I+12), Madrid, Spain.

NF-κB1 is a master regulator of both acquired and innate responses. loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated infection expands the clinical and immunological phenotype of NF-κB1 deficiency. Read More

Am J Gastroenterol 2019 Feb 8. Epub 2019 Feb 8.

Department of Gastroenterology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Objectives: Common variable immunodeficiency (CVID) is associated with a spectrum of autoimmune complications. We studied the prevalence of gastrointestinal (GI) manifestations and infections in patients with CVID.

Methods: Complete clinical data of 132 Finnish patients with CVID (106 probable and 26 possible CVID) followed up between 2007 and 2016 were collected to a structured database. Read More

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

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

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

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

Front Immunol 2018 22;9:3135. Epub 2019 Jan 22.

Department of Immunology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.

Common variable immunodeficiency disorder (CVID) is one of the most frequent inborn errors of immunity, increased occurrence of malignancies, particularly lymphomas, and gastric cancers, has long been noted among CVID patients. Multifactorial etiology, including immune dysregulation, infections, chronic inflammation, or genetic background, is suggested to contribute to tumor development. Here, we present the results of the first Czech nationwide study focused on epidemiology, immunology and genetic background in a cohort of CVID patients who also developed tumors The cohort consisted of 295 CVID patients followed for 3,070 patient/years. Read More

Front Pharmacol 2018 18;9:1559. Epub 2019 Jan 18.

Department of Immunology of Infectious Diseases, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.

Lymphoid interstitial pneumonia (LIP) is a rare lymphoproliferative disease. LIP in common variable immunodeficiency (CVID) was observed in a patient during immunomodulatory therapy after progression of the disease (i.e. Read More

Georgian Med News 2018 Dec(285):124-130

I. Horbachevsky Ternopil State Medical University, Ukraine; Wroclaw Medical University, Poland.

Primary immunodeficiency diseases (PID) are a group of more than 300 rare, chronic disorders in which a part of the body's immune system is missing or functions improperly. The issue of early diagnosis, timely and effective treatment, prevention of complications and improved prognosis remains extremely relevant. The aim of this study was to assess the awareness of graduating medical university students about the signs of primary immunodeficiency in children and adults. Read More

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

Pediatr Blood Cancer 2019 Jan 29:e27619. Epub 2019 Jan 29.

Department of Hematology, Children's Hospital of Orange County, Orange, California.

An array of monogenic immune defects marked by autoimmunity, lymphoproliferation, and hyperinflammation rather than infections have been described. Primary immune regulatory disorders pose a challenge to pediatric hematologists and oncologists. This paper focuses on primary immune regulatory disorders including autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like syndromes, immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like disorders, common variable immunodeficiency (CVID), CVID-like, and late-onset combined immunodeficiency (CID) disorders. Read More

Hum Vaccin Immunother 2019 Jan 24. Epub 2019 Jan 24.

c ENT Department , Maria Sklodowska Curie Children's Emergency Hospital , Bucharest , Romania.

Deficient antibody production in patients with common variable immunodeficiency (CVID) is accompanied by an inability to produce free light chains (FLCs), particularly kappa (κ) FLC, due to B-cell dysfunction. We found that intravenous immunoglobulin (IVIg) administration, in a patient with CVID and (κ) FLC deficiency, for o short period of only 6 months, induced after discontinuation of treatment some kind of "long-lasting active immunity", leading to the secretion of immunoglobulin (κ) FLCs. A remarkable finding of our study is how effectively IVIg therapy led to a calculable (κ/λ) FLCs ratio, within the reference range. Read More

J Vet Diagn Invest 2019 Jan 19:1040638718824146. 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

Sci Rep 2019 Jan 17;9(1):167. Epub 2019 Jan 17.

Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, Norway.

Common variable immunodeficiency (CVID) patients have reduced gut microbial diversity compared to healthy controls. The reduced diversity is associated with gut leakage, increased systemic inflammation and ten "key" bacteria that capture the gut dysbiosis (dysbiosis index) in CVID. Rifaximin is a broad-spectrum non-absorbable antibiotic known to reduce gut leakage (lipopolysaccharides, LPS) in liver disease. Read More

J Clin Immunol 2019 Jan 15. Epub 2019 Jan 15.

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

Objective: We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations. For these patients, IgRT schedule was chosen after a period focused on identifying the most suitable individual option.

Methods: Three hundred twenty-seven participants were enrolled in a prospective, observational, 18-month study. Read More

Clin Exp Immunol 2019 Jan 13. Epub 2019 Jan 13.

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

Common variable immunodeficiency (CVID) is a complex disease with various influences on perceived health, which correlate with different outcomes, including new morbidity and mortality. Our hypothesis was that CVID patients fall into distinct clusters of perceived health which can inform care. Ward hierarchical cluster analysis and K-means cluster analysis were performed on data of 209 CVID patients to identify subgroups regarding their self-reported physical and mental health status, assessed by the physical (PCS) and mental component scores (MCS) of the Short Form-12 (SF-12). Read More

Epidemiol Mikrobiol Imunol 2018 ;67(3):142-148

Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency Common variable immunodeficiency, a heterogeneous group of diseases, represents a clinically relevant form of antibody immunodeficiency. Granulomatous/lymphocytic interstitial lung disease is among the most serious complications. A case report is presented of a young women with granulomatous/lymphocytic interstitial lung disease and splenomegaly accompanied by pancytopenia. Read More

Leuk Res 2019 Jan 4;76:70-75. Epub 2018 Dec 4.

Laboratory of Myeloid Malignancies, Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance and expressivity within families is often variable. There is a spectrum of bone marrow disease in symptomatic cytopenic patients ranging from hypocellular marrows without overt dysplasia to those with definitive MDS, AML, or chronic myelomonocytic leukemia. Read More

World J Radiol 2018 Nov;10(11):172-183

Institute of Radiology, Department of Medicine, University of Udine, Azienda Sanitaria Universitaria Integrata di Udine, Udine 33100, Italy.

Aim: To compare high-resolution computed tomography (HRCT) findings between humoral primary immunodeficiencies (hPIDs) subtypes; to correlate these findings to pulmonary function tests (PFTs).

Methods: We retrospectively identified 52 consecutive adult patients with hPIDs who underwent 64-row HRCT and PFTs at the time of diagnosis. On a per-patient basis, an experienced radiologist recorded airway abnormalities (bronchiectasis, airway wall thickening, mucus plugging, tree-in-bud, and air-trapping) and parenchymal-interstitial abnormalities (consolidations, ground-glass opacities, linear and/or irregular opacities, nodules, and bullae/cysts) found on HRCT. Read More

J Allergy Clin Immunol Pract 2018 Dec 14. Epub 2018 Dec 14.

The Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

Background: Common variable immunodeficiency (CVID) and IgG deficiency are 2 of the more prevalent primary humoral immune defects. The former is defined by consensus with criteria for quantitative and qualitative antibody defects, whereas the latter is used to describe patients with reduced IgG, who commonly have recurrent sinopulmonary infections but do not fulfill CVID criteria. However, these patients are often given this diagnosis. Read More

Front Neurol 2018 30;9:1031. Epub 2018 Nov 30.

Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Common Variable Immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies sharing defective B lymphocytes maturation and dysregulated immune response and resulting in impaired immunoglobulin production. Clinical picture encompasses increased susceptibility to infections, hematologic malignancies, inflammatory, and autoimmune diseases. Neurological manifestations are uncommon and optic neuritis has been previously reported only in one case with bilateral involvement. Read More

J Allergy Clin Immunol 2018 Dec 7. Epub 2018 Dec 7.

Sorbonne Université, INSERM, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), , Assistance Publique-Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Département d'Immunologie, Paris, France. Electronic address:

Background: Commensals induce local IgA responses essential to the induction of tolerance to gut microbiota, but it remains unclear whether antimicrobiota responses remain confined to the gut.

Objective: The aim of this study was to investigate systemic and intestinal responses against the whole microbiota under homeostatic conditions and in the absence of IgA.

Methods: We analyzed blood and feces from healthy donors, patients with selective IgA deficiency (SIgAd), and patients with common variable immunodeficiency (CVID). Read More

J Clin Immunol 2019 Jan 13;39(1):45-54. Epub 2018 Dec 13.

Paediatric Immunology Unit, Department of Paediatric Pulmonology, Allergology and Neonatology, Hanover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. Read More

Transfusion 2018 Dec;58 Suppl 3:3056-3064

Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

Primary immunodeficiency (PID) diseases result from genetic defects of the immune system that increase a patient's susceptibility to infections. The types of infections that occur in patients with PID diseases are dictated largely by the nature of the immunodeficiency, which can be defined by dysfunction of cellular or humoral defenses. An increasing number of PID diseases, including those with both cellular and humoral defects, have antibody deficiency as a major feature, and as a result can benefit from immunoglobulin replacement therapy. Read More

J Investig Allergol Clin Immunol 2018 Dec;28(6):422-424

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Allergol Immunopathol (Madr) 2019 Jan - Feb;47(1):52-59. Epub 2018 Nov 30.

Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by low serum levels of immunoglobulins (Igs) and recurrent infection. In most CVID patients, a defect in the differentiation of B cells into plasma cells has been observed. Several factors play an important role in the proliferation and differentiation of B cells, including IRF4 and XBP1 transcription factors. Read More

Am J Hum Genet 2018 Dec 29;103(6):1038-1044. Epub 2018 Nov 29.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain-of-function mutations in CDKN1C. Read More

Ugeskr Laeger 2018 Nov;180(47)

Common variable immunodeficiency disease (CVID) is the most common primary immunodeficiency in adults, and multiple organs may be involved. This is a case report of a 49-year-old female patient with granulomatous-lymphocytic interstitial lung disease, liver fibrosis, portal hypertension and rectal cancer. Examinations showed non-necrotic granulomas in her lungs, mediastinal glands and liver, and she was seen in six different specialities. Read More

J Immunol 2019 Jan 28;202(1):93-104. Epub 2018 Nov 28.

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35249.

Common variable immunodeficiency disorders (CVID) represent a group of primary immunodeficiency diseases characterized by hypogammaglobulinemia and impaired specific Ab response, resulting in recurrent infections due to dysfunctional immune response. The specific mechanisms mediating immune deficiency in CVID remain to be determined. Previous studies indicated that immune dysregulation in CVID patients is associated with chronic microbial translocation, systemic immune activation, and altered homeostasis of lymphocytic and myeloid lineages. Read More

N Engl J Med 2018 11;379(22):2173-2176

University College London, London, United Kingdom.

GE Port J Gastroenterol 2018 Nov 13;25(6):322-326. Epub 2018 Feb 13.

Gastroenterology Department, Hospital da Senhora da Oliveira, Guimarães, Portugal.

Common variable immunodeficiency (CVID) is the most frequent form of immunodeficiency in adults. Clinical manifestations are heterogeneous with an increased susceptibility to infections and inflammatory conditions, namely autoimmune diseases, such as inflammatory bowel disease. We present the clinical case of a Caucasian female patient, 21 years old, with a past medical history of CVID, with multiple visits to the emergency department due to abdominal pain in the lower quadrants and diarrhea. Read More

J Clin Immunol 2019 Jan 21;39(1):30-36. Epub 2018 Nov 21.

Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency among adults and is characterized by a B cell dysfunction and increased risk of respiratory tract infections with encapsulated bacteria. However, a large proportion of patients also has inflammatory and autoimmune complications. It may seem like a paradox that immunodeficiency and inflammation/autoimmunity coexist within the same individuals. Read More

Cell Death Dis 2018 Nov 21;9(12):1156. Epub 2018 Nov 21.

Immunology Department, Son Espases Hospital, Palma, Balearic Islands, Spain.

Common variable immunodeficiency (CVID) is characterized by an abnormal B cell differentiation to memory and antibody-secreting B cells. The defective functionality of CVID patients' B cells could be the consequence of alterations in apoptosis regulation. We studied the balance of Bcl-2 family anti-/pro-apoptotic proteins to identify molecular mechanisms that could underlie B cell survival defects in CVID. Read More

Int Arch Allergy Immunol 2019 20;178(2):192-200. Epub 2018 Nov 20.

Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

Background: Common variable immunodeficiency (CVID) is one of the most frequent primary immunodeficiencies and is characterized by disturbed immunoglobulin production and dysregulation of the immune system. Results of previous studies suggest a higher prevalence of bronchial asthma (BA) in CVID patients than in the general population. We initiated this study to evaluate lung functions and identify risk factors for BA and bronchial hyperresponsiveness (BHR) in patients with CVID. Read More

Front Immunol 2018 5;9:2546. Epub 2018 Nov 5.

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

An increased prevalence of malignant lymphoma and of gastric cancer has been observed in large cohorts of patients with common variable immunodeficiency (CVID), the most frequently symptomatic primary immunodeficiency. Surveillance strategies for cancers in CVID should be defined based on epidemiological data. Risks and mortality for cancers among 455 Italian patients with CVID were compared to cancer incidence data from the Italian Cancer Registry database. Read More

Arch Pathol Lab Med 2018 Nov 16. Epub 2018 Nov 16.

From the Department of Pathology, Loyola University Medical Center, Maywood, Illinois.

Primary immunodeficiency disorders typically have an onset in childhood. The suspicion for these conditions usually arises from a history of recurrent respiratory, gastrointestinal, or cutaneous infections with a history often dating back to infancy or early childhood. However, adults can also be affected. Read More

Orphanet J Rare Dis 2018 Nov 12;13(1):201. Epub 2018 Nov 12.

Department Tranzo, Tilburg University, PO Box 90153 (RP219), 5000 LE, Tilburg, the Netherlands.

Background: Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden of CVID in Europe has not been previously estimated. We performed a retrospective analysis of the European Society for Immunodeficiencies (ESID) registry data on the subset of patients classified by their immunologist as CVID and treated between 2004 and 2014. Read More

Eur Ann Allergy Clin Immunol 2019 Jan 12;51(1):32-37. Epub 2018 Nov 12.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Summary: Primary immunodeficiency diseases (PIDs) are life-threatening disorders, which manifest commonly with gastrointestinal (GI) signs, mainly as chronic diarrhea. To investigate and compare infectious etiology of chronic diarrhea in different PIDs. Assessing clinical features, obtaining immunological profiles, as well as characterizing infectious etiology of diarrhea were performed in 38 PID patients with chronic diarrhea. Read More

Br J Dermatol 2018 Nov 10. Epub 2018 Nov 10.

Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research, University of Naples Federico II, Naples, Italy.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults. CVID is characterized by reduced serum levels of IgG, IgA, and/or IgM, recurrent bacterial infections, autoimmune and inflammatory diseases and malignancies. According to literature, autoimmune diseases occur in 20-30% of CVID patients. Read More

Eur J Clin Invest 2019 Feb 4;49(2):e13047. Epub 2019 Jan 4.

Ruth Children's Hospital and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.

Leucocyte adhesion deficiency (LAD) is a rare, innate autosomal recessive immunodeficiency with three subtypes. Twenty-nine patients with LADs were diagnosed and treated in Israeli Medical Centers and in the Palestinian Authority. We discuss the phenotypic, genotypic and biochemical features of LAD-I, LAD-II and LAD-III diagnosed during the neonatal period and early infancy in 18, 6 and 5 patients, respectively. Read More

Front Immunol 2018 25;9:2468. Epub 2018 Oct 25.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Mutations in , encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. Allergy and asthma have been reported in the CHH population and some patients suffer from autoimmune (AI) diseases. We explored AI and allergic manifestations in a large cohort of Finnish patients with CHH and correlated clinical features with laboratory parameters and autoantibodies. Read More

J Allergy Clin Immunol Pract 2018 Nov 5. Epub 2018 Nov 5.

Second Unit of Internal Medicine, Azienda Sanitaria Universitaria Integrata di Udine, Udine, Italy. Electronic address:

Autoimmun Rev 2019 Jan 5;18(1):15-20. Epub 2018 Nov 5.

University of Toronto, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.

In recent years, the cross talk between the liver and the immune system is being uncovered, in part by studying liver involvement in primary immune deficiencies (PID) and in part by investigating the alterations of the immune system following orthotopic liver transplantation (OLT). Here we review some of the reciprocal interactions between the liver and the immune system. Patients with PID, particularly those involving inherited defects in T and B cells or innate immunity are prone to infections and inflammatory responses that often involve the liver. Read More

Front Pediatr 2018 18;6:282. Epub 2018 Oct 18.

Division of Allergy, Immunology and Rheumatology, Boston Children's Hospital, Boston, MA, United States.

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of systemic vasculopathy that often presents during early childhood. Linked to biallelic mutations in (previously ), DADA2 was initially described as a syndrome of recurrent fever, livedo racemosa, early-onset strokes, and peripheral vasculopathy that resembles polyarteritis nodosum. However, the wide spectrum of clinical findings and heterogeneity of disease, even among family members with identical mutations, is increasingly recognized. Read More

Case Reports Immunol 2018 14;2018:6897935. Epub 2018 Oct 14.

Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.

When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy with prophylaxis. A seven-year-old male patient was admitted with recurrent upper and lower respiratory tract infections and recurrent otitis media. Read More

Pol Arch Intern Med 2018 Dec 7;128(12):783-784. Epub 2018 Nov 7.

Med Hypotheses 2018 Dec 8;121:36-41. Epub 2018 Sep 8.

Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan.

The disruption of adaptive immune response has adverse effects on the establishment and maintenance of pregnancy. The adaptive immune system is regulated by several types of immune cells. However, there is limited information about cell hierarchy in the adaptive immune response to the establishment and maintenance of pregnancy in women. Read More

Medicine (Baltimore) 2018 Nov;97(44):e12804

Rationale: Subcutaneous immunoglobulin administration facilitated by recombinant human hyaluronidase is a new mode of immunoglobulin replacement. It has been approved for treatment in primary and secondary antibody immunodeficiency. To date, it has not been reported in the literature as therapy of choice during pregnancy. Read More

Front Immunol 2018 15;9:2384. Epub 2018 Oct 15.

Department of Tranzo, Tilburg University, Tilburg, Netherlands.

Most patients with primary antibody deficiency (PAD) suffer from less well-described and understood forms of hypogammaglobulinemia (unclassified primary antibody deficiency, unPAD). Because of the moderately decreased immunoglobulin levels compared to CVID, unPAD is generally considered to be clinically mild and not very relevant. To describe our cohort of-mainly-unPAD patients, and to analyze whether subgroups can be identified. Read More

Biomed Res Int 2018 30;2018:3724630. Epub 2018 Sep 30.

Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China.

Common variable immunodeficiency (CVID) belongs to the primary immunodeficiency disorders (PIDs), presenting a profound heterogeneity in phenotype and genotype, with monogenic or complex causes. Recurrent respiratory infections are the most common clinical manifestations. CVID patients can also develop various autoimmune and lymphoproliferative complications. Read More