7,972 results match your criteria Hypogammaglobulinemia


PTEN Hamartoma Tumor Syndrome and Immune Dysregulation.

Transl Oncol 2018 Nov 29;12(2):361-367. Epub 2018 Nov 29.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands. Electronic address:

Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. Read More

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November 2018
1 Read

Loss of human ICOSL results in combined immunodeficiency.

J Exp Med 2018 Dec;215(12):3151-3164

Infectious Disease Susceptibility Program, McGill University Health Centre and Research Institute-McGill University Health Centre, Montréal, Québec, Canada

Primary immunodeficiencies represent naturally occurring experimental models to decipher human immunobiology. We report a patient with combined immunodeficiency, marked by recurrent respiratory tract and DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. He also developed moderate neutropenia but without prototypical pyogenic infections. Read More

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December 2018
5 Reads

Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders.

J Immunol 2018 Nov 28. 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

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November 2018

Risk factors for infections in newly diagnosed Multiple Myeloma patients: A Danish retrospective nationwide cohort study.

Eur J Haematol 2018 Oct 29. Epub 2018 Oct 29.

Department of Hematology, Rigshospitalet, Copenhagen, Denmark.

Objectives: Infections pose the greatest risk of early death in patients with Multiple Myeloma. However, few studies have analyzed the risk factors for infections in Multiple Myeloma patients. The aim of this study was to analyze the risk factors infections within a population-based MM cohort. Read More

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October 2018
1 Read

Two male siblings with a novel mutation presenting with different findings of IPEX syndrome.

JMM Case Rep 2018 Oct 15;5(10):e005167. Epub 2018 Oct 15.

Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.

Introduction: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.

Case Presentation: Two male siblings with a novel mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. Read More

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October 2018
2 Reads

Secondary Hypogammaglobulinemia: An Increasingly Recognized Complication of Treatment with Immunomodulators and After Solid Organ Transplantation.

Immunol Allergy Clin North Am 2019 Feb;39(1):31-47

Division of Allergy and Immunology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Steven and Alexandra Cohen Medical Center of New York, 865 Northern Boulevard, Suite 101, Great Neck, NY 11021, USA.

Secondary hypogammaglobulinemia is a common development in patients treated with immunomodulatory agents for autoimmune, connective tissue, and malignant diseases. It has been observed in the medical management of patients undergoing hematopoietic stem cell and solid organ transplantation. Some patients have preexisting immunodeficiency associated with these illnesses; immunosuppressive treatment magnifies their immune defect. Read More

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February 2019
8 Reads

Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1.

Allergy Asthma Clin Immunol 2018 14;14:82. Epub 2018 Nov 14.

1Department of Hematology and Oncology, Children's Cancer Center, Kobe Children's Hospital, Minatojima-Minamimachi 1-6-7, Chuo-ku, Kobe, 650-0047 Japan.

Background: X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immune deficiency, which is caused by gene mutations. XLP1 is commonly associated with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphoma. The only curative treatment for XLP1 is allogeneic hematopoietic cell transplantation. Read More

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November 2018
3 Reads

Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France.

Emerg Infect Dis 2018 Dec;24(12):2382-2386

We report a disseminated infection caused by Spiroplasma apis, a honeybee pathogen, in a patient in France who had X-linked agammaglobulinemia. Identification was challenging because initial bacterial cultures and direct examination by Gram staining were negative. Unexplained sepsis in patients with agammaglobulinemia warrants specific investigation to identify fastidious bacteria such as Spiroplasma spp. Read More

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December 2018

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2018 Nov 14. Epub 2018 Nov 14.

Laboratory of inborn errors of immunity, Department of Immunology and Microbiology, KU Leuven, Leuven, Belgium.

The original version of this article unfortunately did not display the appropriate captions in the figure. The correct version is displayed below. Read More

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November 2018
3 Reads

Long-term outcomes after early treatment with rituximab for Japanese children with cyclosporine- and steroid-resistant nephrotic syndrome.

Pediatr Nephrol 2018 Nov 13. Epub 2018 Nov 13.

Division of Nephrology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama city, Saitama, 330-8777, Japan.

Background: Although rituximab (RTX) may be effective treatment in children with nephrotic syndrome who are resistant to cyclosporine A and steroid (CsA-SRNS), long-term outcomes after B cell depleting therapy remain unclear.

Case-diagnosis/treatment: We retrospectively reviewed the clinical courses (median follow-up, 5.1 years) of six CsA-SRNS children (three boys; median age at RTX, 4. Read More

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November 2018
2 Reads

Infectious etiology of chronic diarrhea in patients with primary immunodeficiency diseases.

Eur Ann Allergy Clin Immunol 2018 11 12. 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

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November 2018
5 Reads

LRBA in the endomembrane system.

Colomb Med (Cali) 2018 Sep 30;49(3):236-243. Epub 2018 Sep 30.

Grupo de Inmunodeficiencias primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellín, Colombia.

Bi-allelic mutations in (from ) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifestations. LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. In this review, we will discuss the relationship of LRBA with the endovesicular system in the context of receptor trafficking, autophagy and apoptosis. Read More

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September 2018
12 Reads

Are naïve T cells and class-switched memory (IgD CD27) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy.

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

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December 2018
1 Read

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

J Clin Invest 2018 Dec 5;128(12):5489-5504. Epub 2018 Nov 5.

Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.

We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circulating γδT cells, and erythrocyte macrocytosis. Clinical severity ranged from a mild antibody deficiency to a combined immunodeficiency requiring hematopoietic stem cell transplantation. Read More

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December 2018
7 Reads

Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.

Clin Immunol 2018 Oct 31. Epub 2018 Oct 31.

Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, Division of Pediatric Hematology-Oncology-BMT, University of Manitoba, Winnipeg, Manitoba, Canada.

IKBKB deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacterial infections. Read More

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October 2018
1 Read

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Front Immunol 2018 16;9:2397. Epub 2018 Oct 16.

Jeffrey Modell Foundation Excellence Center, Barcelona, Spain.

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. However, further reports expanded this phenotype (including patients without hypogammaglobulinemia) and described LRBA deficiency as a clinically variable syndrome with a wide spectrum of clinical manifestations. Read More

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October 2018
10 Reads

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Curr Allergy Asthma Rep 2018 Oct 30;18(12):75. Epub 2018 Oct 30.

Department of Pathology, Division of Genomic Medicine, Children's Hospital Los Angeles, USC Keck School of Medicine, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.

Purpose Of Review: This review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.

Recent Findings: Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Read More

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October 2018
2 Reads

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.

Allergy Asthma Clin Immunol 2018 22;14:65. Epub 2018 Oct 22.

1Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC Australia.

Background: Daclizumab is a humanized monoclonal antibody that blocks CD25, the high affinity alpha subunit of the interleukin-2 receptor. Daclizumab therapy targets T regulatory cell and activated effector T cell proliferation to suppress autoimmune disease activity, in inflammatory conditions like relapsing and remitting multiple sclerosis. Here, we present the first report of agranulocytosis with daclizumab therapy in a patient with relapsing and remitting multiple sclerosis. Read More

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October 2018
9 Reads

Mild Hypogammaglobulinemia Can Be a Serious Condition.

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

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October 2018
13 Reads

Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome.

Clin Immunol 2018 Dec 24;197:219-223. Epub 2018 Oct 24.

Division of Bone Marrow Transplant, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA. Electronic address:

Early onset multisystem autoimmunity is commonly the defining feature of IPEX. Recurrent sinopulmonary infections and CVID-like phenotype were not previously recognized as a presentation in IPEX. Herein, we describe three extended family members with IPEX. Read More

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December 2018
4 Reads
3.670 Impact Factor

Primary B-cell immunodeficiencies.

Hum Immunol 2018 Oct 22. Epub 2018 Oct 22.

Division of Allergy and Clinical Immunology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029-6574, United States. Electronic address:

Primary B-cell immunodeficiencies refer to diseases resulting from impaired antibody production due to either molecular defects intrinsic to B-cells or a failure of interaction between B-cells and T-cells. Patients typically have recurrent infections and can vary with presentation and complications depending upon where the defect has occurred in B-cell development or the degree of functional impairment. In this review, we describe B-cell specific immune defects categorized by presence or absence of peripheral B-cells, immunoglobulins isotypes and evidence of antibody impairment. Read More

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October 2018
7 Reads

Clinical and Immunological Characterization of ICF Syndrome in Japan.

J Clin Immunol 2018 Oct 23. Epub 2018 Oct 23.

Department of Pediatrics, National Defense Medical College, 3-2, Namiki, Tokorozawa, Saitama, 359-0042, Japan.

Objective: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive primary immunodeficiency. Hypogammaglobulinemia is a major manifestation of ICF syndrome, but immunoglobulin replacement therapy does not seem to be effective for some ICF patients. Therefore, we aimed to reassess the immunological characteristics of this syndrome. Read More

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October 2018
5 Reads

BAFF and BAFF-Receptor in B Cell Selection and Survival.

Front Immunol 2018 8;9:2285. Epub 2018 Oct 8.

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

The BAFF-receptor (BAFFR) is encoded by the TNFRSF13C gene and is one of the main pro-survival receptors in B cells. Its function is impressively documented in humans by a homozygous deletion within exon 2, which leads to an almost complete block of B cell development at the stage of immature/transitional B cells. The resulting immunodeficiency is characterized by B-lymphopenia, agammaglobulinemia, and impaired humoral immune responses. Read More

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October 2018
13 Reads

Recurrent Opportunistic Infections in a Thymectomised Patient with Myasthenia Gravis and Good's Syndrome.

Cureus 2018 Aug 10;10(8):e3130. Epub 2018 Aug 10.

Neurology, University of Missouri, Columbia, USA.

We report the case of a 65-year-old man with myasthenia gravis, who developed recurrent opportunistic infections following thymectomy and immunosuppressive therapy. Subsequent evaluation including immunological studies, flow cytometry, and bone marrow studies confirmed the diagnosis of Good's syndrome. The patient was successfully treated with intravenous immunoglobulin (IVIG) and has remained stable with a monthly IVIG regimen. Read More

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August 2018
1 Read

[Ecthyma gangrenosum].

Pan Afr Med J 2018 5;30:95. Epub 2018 Jun 5.

University Mohammed V, Ibn Sina, Hospital University, Rabat, Morocco.

Ecthyma gangrenosum (EG) is a severe potentially lethal cutaneous infection that progresses sequentially from maculopapular rash to haemorrhagic bulla and then to necrotic ulceration with surrounding erythema. It usually occurs in immunocompromised patients (aplasia secondary to chemotherapy, HIV infection, neutropenia or functional deficit of neutrophils, agammaglobulinemia). It rarely affects healthy people. Read More

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October 2018
7 Reads

Oral direct-acting antiviral therapy for hepatitis C virus infection in X-linked agammaglobulinemia.

J Allergy Clin Immunol Pract 2018 Oct 17. Epub 2018 Oct 17.

Department of Internal Medicine 3, Division of Gastroenterology & Hepatology, Medical University of Vienna, Vienna, Austria.

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October 2018
3 Reads

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.

Clin Immunol 2018 Dec 13;197:186-188. Epub 2018 Oct 13.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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December 2018
1 Read

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2018 Oct 11;38(7):748-752. Epub 2018 Oct 11.

Department of Immunology and Microbiology, Laboratory of inborn errors of immunity, KU Leuven, Leuven, Belgium.

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October 2018
12 Reads

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication.

BMC Res Notes 2018 Oct 11;11(1):717. Epub 2018 Oct 11.

Department of Pediatrics, Cairo University, Cairo University Specialized Pediatric Hospital, 1 Ali Ibrahim Street, Mounira, Cairo, Egypt.

Objective: Primary immunodeficiency (PID) patients are prone to developing viral infections and should not be vaccinated with live vaccines. In such patients, prolonged excretion and viral divergence may occur and they may subsequently act as reservoirs in the community introducing mutated virus and jeopardizing polio eradication. One hundred and thirty PID cases were included for poliovirus detection in stool with assessment of divergence of detected polioviruses from oral polio vaccine (OPV) virus. Read More

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October 2018
2 Reads

Advances in site-specific gene editing for primary immune deficiencies.

Authors:
Caroline Y Kuo

Curr Opin Allergy Clin Immunol 2018 Dec;18(6):453-458

Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California, USA.

Purpose Of Review: Conventional gene therapy has been a successful, curative treatment modality for many primary immune deficiencies with significant improvements in the last decade. However, the risk of leukemic transformation with viral-mediated gene addition still remains, and unregulated gene addition is not an option for certain diseases in which the target gene is closely controlled. The recent bloom in genome modification platforms has created the opportunity to site-specifically correct mutated DNA base pairs or insert a corrective cDNA minigene while maintaining gene expression under control of endogenous regulatory elements. Read More

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December 2018
19 Reads

Secondary antibody deficiency in neurology.

Curr Opin Allergy Clin Immunol 2018 Dec;18(6):481-488

University Hospital of Wales.

Purpose Of Review: Induction of lymphocyte depletion is increasingly used as a therapeutic strategy for central and peripheral neuroinflammatory disease. However, there is also a growing recognition of the treatment-related complication of secondary antibody deficiency (SAD). Although the occurrence of hypogammaglobulinaemia is a recognized phenomenon during immunomodulation, robust data on the coexistence of impaired responses to immunization, and significant and/or atypical infections is scarce. Read More

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December 2018
6 Reads

Rapidly progressive encephalopathy caused by Coxsackie meningoencephalitis in an elderly male.

J Neurovirol 2018 Dec 5;24(6):780-785. Epub 2018 Oct 5.

Department of Neurology, Division of Neurocritical Care and Program in Trauma, University of Maryland Medical Center, Baltimore, MD, USA.

Enteroviruses and Coxsackie viruses are common causes of aseptic meningitis and encephalitis in children. These infections usually have a benign, self-limited course. However, they can have a florid presentation in immunocompromised patients, such as neonates, patients exposed to immunosuppressive drugs, such as transplant recipients and patients with agammaglobulinemia. Read More

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December 2018
5 Reads

Clozapine is associated with secondary antibody deficiency.

Br J Psychiatry 2018 Sep 27:1-7. Epub 2018 Sep 27.

Professor of Clinical Immunology,Immunodeficiency Centre for Wales,University Hospital of Wales,UK.

Background: Schizophrenia affects 1% of the population. Clozapine is the only medication licensed for treatment-resistant schizophrenia and is intensively monitored to prevent harm from neutropenia. Clozapine is also associated with increased risk of pneumonia although the mechanism is poorly understood. Read More

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September 2018
4 Reads

Rituximab-induced hypogammaglobulinemia in patients with neuromyelitis optica spectrum disorders.

Neurol Neuroimmunol Neuroinflamm 2018 Nov 13;5(6):e498. Epub 2018 Sep 13.

Neuroscience Institute Cavalieri Ottolenghi (NICO) (A.M., P.V., S.M., A. Balbo, A. Bertolotto, F.M., G.P.), Orbassano, Turin, Italy; Neurologia-CRESM (A.M., P.V., S.M., A. Balbo, A. Bertolotto, F.M., M.C.), AOU San Luigi Gonzaga, Orbassano, Turin, Italy; "Rita Levi Montalcini" Neuroscience Department (F.M., G.P.), University of Turin, TO, Italy; and Humanitas Hospital Gradenigo (A.D., M.L.), Turin, Italy.

Objective: To evaluate the long-term effects of rituximab (RTX) on total and specific immunoglobulins (Igs) in patients with neuromyelitis optica spectrum disorders (NMOSDs).

Methods: Total IgG, IgA, and IgM levels were evaluated in 15 patients with NMOSDs treated with RTX (median follow-up 70 months). Anti-aquaporin 4 (AQP4)-IgG titration was performed on samples from 9 positive patients. Read More

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November 2018
5 Reads

A Prospective Observational Study of Hypogammaglobulinemia in the First Year After Lung Transplantation.

Transplant Direct 2018 Aug 12;4(8):e372. Epub 2018 Jul 12.

Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA.

Background: Immunosuppressive therapies have led to improved survival for lung transplant (LT) recipients but these therapies can lead to hypogammaglobulinemia (HGG) and potentially an increased risk of infection. Large prospective studies have not been performed to evaluate the impact of HGG on outcomes for LT recipients.

Methods: This is a single-center prospective observational study of LT recipients. Read More

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August 2018
2 Reads

BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis.

Nat Commun 2018 09 24;9(1):3888. Epub 2018 Sep 24.

Department of Medicine, Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, Illinois, USA.

Transcription factor (TF) networks determine cell fate in hematopoiesis. However, how TFs cooperate with other regulatory mechanisms to instruct transcription remains poorly understood. Here we show that in small pre-B cells, the lineage restricted epigenetic reader BRWD1 closes early development enhancers and opens the enhancers of late B lymphopoiesis to TF binding. Read More

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September 2018
2 Reads

Neonatal fever: A puzzling case.

Arch Pediatr 2018 Oct 21;25(7):435-438. Epub 2018 Sep 21.

Neonatal Intensive Care Unit, Grenoble Alpes University, CS10217, Grenoble University Hospital, 38043 Grenoble, France; ThEMAS, TIMC-IMAG, CNRS UMR5525, Université Grenoble Alpes, 38041 Grenoble, France.

Toxoplasmosis is a potentially serious fetal infection associated with maternal seroconversion of toxoplasmosis during pregnancy. Follow-up and treatment vary between different countries. We present a case of congenital toxoplasmosis with unusual physiopathology and symptomatology. Read More

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October 2018
5 Reads

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.

J Pediatr Endocrinol Metab 2018 Oct;31(10):1155-1159

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. Read More

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October 2018
2 Reads

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Authors:
Reza Yazdani Hassan Abolhassani Fatemeh Kiaee Sima Habibi Gholamreza Azizi Marzieh Tavakol Zahra Chavoshzadeh Seyed Alireza Mahdaviani Tooba Momen Mohammad Gharagozlou Masoud Movahedi Amir Ali Hamidieh Nasrin Behniafard Mohammamd Nabavi Mohammad Hassan Bemanian Saba Arshi Rasol Molatefi Roya Sherkat Afshin Shirkani Reza Amin Soheila Aleyasin Reza Faridhosseini Farahzad Jabbari-Azad Iraj Mohammadzadeh Javad Ghaffari Alireza Shafiei Arash Kalantari Mahboubeh Mansouri Mehrnaz Mesdaghi Delara Babaie Hamid Ahanchian Maryam Khoshkhui Habib Soheili Mohammad Hossein Eslamian Taher Cheraghi Abbas Dabbaghzadeh Mahmoud Tavassoli Rasoul Nasiri Kalmarzi Seyed Hamidreza Mortazavi Sara Kashef Hossein Esmaeilzadeh Javad Tafaroji Abbas Khalili Fariborz Zandieh Mahnaz Sadeghi-Shabestari Sepideh Darougar Fatemeh Behmanesh Hedayat Akbari Mohammadreza Zandkarimi Farhad Abolnezhadian Abbas Fayezi Mojgan Moghtaderi Akefeh Ahmadiafshar Behzad Shakerian Vahid Sajedi Behrang Taghvaei Mojgan Safari Marzieh Heidarzadeh Babak Ghalebaghi Seyed Mohammad Fathi Behzad Darabi Saeed Bazregari Nasrin Bazargan Morteza Fallahpour Alireza Khayatzadeh Naser Javahertrash Bahram Bashardoust Mohammadali Zamani Azam Mohsenzadeh Sarehsadat Ebrahimi Samin Sharafian Ahmad Vosughimotlagh Mitra Tafakoridelbari Maziar Rahim Parisa Ashournia Anahita Razaghian Arezou Rezaei Ashraf Samavat Setareh Mamishi Hossein Ali Khazaei Javad Mohammadi Babak Negahdari Nima Parvaneh Nima Rezaei Vassilios Lougaris Silvia Giliani Alessandro Plebani Hans D Ochs Lennart Hammarström Asghar Aghamohammadi

J Allergy Clin Immunol Pract 2018 Sep 19. Epub 2018 Sep 19.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.

Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.

Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Read More

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September 2018
15 Reads

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.

Am J Med Genet A 2018 Sep 14. Epub 2018 Sep 14.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

Phelan-McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This deletion encompasses the SHANK3 gene at 22q13.33, which is thought to be the critical gene for the neurodevelopmental features seen in this syndrome. Read More

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September 2018
7 Reads

Clinical and laboratory features of seventy-eight UK patients with Good's syndrome (thymoma and hypogammaglobulinaemia).

Clin Exp Immunol 2018 Sep 14. Epub 2018 Sep 14.

Immunology, University of Manchester, Manchester University Hospitals NHS Trust, Manchester, UK.

Good's syndrome (thymoma and hypogammaglobulinaemia) is a rare secondary immunodeficiency disease, previously reported in the published literature as mainly individual cases or small case series. We use the national UK-Primary Immune Deficiency (UKPID) registry to identify a large cohort of patients in the UK with this PID to review its clinical course, natural history and prognosis. Clinical information, laboratory data, treatment and outcome were collated and analysed. Read More

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September 2018
7 Reads

Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.

Eur J Med Genet 2018 Sep 11. Epub 2018 Sep 11.

Department of Paediatrics, Division of Rheumatology and Immunology, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia. Electronic address:

We report a case of a 17-year-old Caucasian girl with syndromic features of clinically unrecognized Kabuki syndrome (KS), who developed systemic lupus erythematosus (SLE). Diagnosis of KS was established after whole exome sequencing (WES) and detection of de novo frameshift 1bp deletion in histone-lysine N-methyltransferase 2D gene (KMT2D). The pathogenic variant in exon 34 (c. Read More

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September 2018
1 Read

Immunoglobulin prophylaxis in pediatric hematopoietic stem cell transplant.

Pediatr Blood Cancer 2018 Dec 11;65(12):e27348. Epub 2018 Sep 11.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Background: After allogeneic hematopoietic stem cell transplantation (HSCT), patients have an increased susceptibility to infections, thought to be due in part to hypogammaglobulinemia. Thus, prophylactic administration of intravenous immunoglobulins (IVIG) has been administered to patients after HSCT as standard of care. This study compares the viral infection rate between dosing IVIG by IgG levels versus by routine monthly administration in pediatric patients after HSCT. Read More

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December 2018
1 Read

Evaluation of Responsiveness to Reduced-Dose Rituximab in Corticotropin/Intravenous Immunoglobulin/Rituximab Combination Immunotherapy for Opsoclonus-Myoclonus Syndrome.

Pediatr Neurol 2018 Aug 18;85:71-75. Epub 2018 May 18.

Department of Pediatric Hematology/Oncology, Golisano Children's Hospital of Southwest Florida, Lee Memorial Health Care System, Fort Myers, Florida. Electronic address:

Background: Rituximab (anti-CD20) has been used as B-cell-targeted intervention to treat opsoclonus-myoclonus syndrome. Due to isolated reports of chronic hypogammaglobulinemia and B lymphopenia following rituximab in several disorders, and rapid B-cell depletion after a few doses, we reduced the dosage 20% in our clinical practice.

Methods: In this Institutional Review Board-approved retrospective study, 32 children with opsoclonus-myoclonus syndrome and cerebrospinal fluid B-cell expansion had received front-loaded adrenocorticotropic hormone, intravenous immunoglobulin, and rituximab combination immunotherapy for de novo opsoclonus-myoclonus syndrome. Read More

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August 2018
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Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy.

Clin Drug Investig 2018 Oct;38(10):955-965

Economic Evaluation and HTA (EEHTA), CEIS, Faculty of Economics, University of Rome "Tor Vergata", Rome, Italy.

Background: In Italy, there is scarce evidence on the epidemiological and economic burden induced by primary antibody deficiencies.

Objective: The aim of this study was to elaborate the available epidemiological and cost data in order to estimate the annual expenditure induced by the management of patients affected by the common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) requiring immunoglobulin (Ig) replacement therapy.

Methods: A probabilistic cost-of-illness model was developed to estimate the number of patients with CVID and XLA, and the economic burden associated with their therapy in terms of direct or indirect costs. Read More

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October 2018
10 Reads

Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections.

Front Immunol 2018 23;9:1925. Epub 2018 Aug 23.

Section Pediatric Infectious Diseases, Laboratory of Medical Immunology, Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

Patients with primary immunoglobulin deficiency have lower immunoglobulin levels or decreased immunoglobulin function, which makes these patients more susceptible to bacterial infection. Most prevalent are the selective IgA deficiencies (~1:3,000), followed by common variable immune deficiency (~1:25,000). Agammaglobulinemia is less common (~1:400,000) and is characterized by very low or no immunoglobulin production resulting in a more severe disease phenotype. Read More

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August 2018
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Different presentations of patients with transcobalamin II deficiency: A single center experience from Turkey.

Turk J Haematol 2018 Sep 6. Epub 2018 Sep 6.

Mersin University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Mersin, Turkey.

Objective: Transcobalamin II (TC) deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities and also recurrent infections due to immune abnormalities in early infancy.

Materials And Methods: Here, we report the clinical and laboratory features of six children with TC deficiency who are all molecularly confirmed. Read More

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September 2018
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UBE2A-related X-linked intellectual disability.

Clin Dysmorphol 2019 Jan;28(1):1-6

Greenwood Genetic Center, Greenwood, South Carolina, USA.

UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia. Read More

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January 2019
6 Reads