8,022 results match your criteria Hypogammaglobulinemia


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

Am J Hum Genet 2019 Feb 11. Epub 2019 Feb 11.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.007DOI Listing
February 2019

The investigation of Strongyloides stercoralis seroprevalence in immunosupressed patients in Turkey

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18176/jiaci.0388DOI Listing
February 2019
1 Read

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

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

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

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

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

Nat Immunol 2019 Feb 4. Epub 2019 Feb 4.

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

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

Immunoglobulinopathies in patients with angioimmunoblastic T-cell lymphoma.

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.26442/terarkh201890751-56DOI Listing
August 2018
1 Read

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

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

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2018.11.009DOI Listing
January 2019
1 Read

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

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

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

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

Ethanol LOCK & Immunoglobulin LOAD: Improving the Clinical Course of Tricho-hepato-enteric Syndrome.

Ann Allergy Asthma Immunol 2019 Jan 23. Epub 2019 Jan 23.

Staff Physician, Department of Allergy and Immunology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10811206193004
Publisher Site
http://dx.doi.org/10.1016/j.anai.2019.01.012DOI Listing
January 2019
9 Reads

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

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

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

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

View Article

Download full-text PDF

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

Neurological Involvement in Childhood Evans Syndrome.

J Clin Immunol 2019 Jan 22. Epub 2019 Jan 22.

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

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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-0594-3
Publisher Site
http://dx.doi.org/10.1007/s10875-019-0594-3DOI Listing
January 2019
4 Reads

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

Authors:
Trine H Mogensen

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

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

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

View Article

Download full-text PDF

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

Neuroborreliosis in a horse with common variable immunodeficiency.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1040638718824146DOI Listing
January 2019
1 Read

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

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

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

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

View Article

Download full-text PDF

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

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

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

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

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

View Article

Download full-text PDF

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

Mast cells in mastocytosis and allergy - Important player in metabolic and immunological homeostasis.

Adv Med Sci 2019 Jan 11;64(1):124-130. Epub 2019 Jan 11.

Department of General and Medical Biochemistry, University of Gdańsk, Gdańsk, Poland.

The role of mast cell (MC) activity in pathophysiology is complex and challenging and its clinical effects are difficult to predict. Apart from the known role of MCs in basic immunological processes and allergy, underlined is their importance in bone mineralization and in regulation of autoimmune reactions. Mast cell mediators, especially those released from mast cells in degranulation, but also those released constitutively, are important both in metabolic and immunological processes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.advms.2018.08.013DOI Listing
January 2019
2 Reads

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

Clin Immunol 2019 Jan 9;200:31-34. Epub 2019 Jan 9.

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.

This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2019.01.003DOI Listing
January 2019
5 Reads

IgA hypogammaglobulinemia predicts outcome in chronic lymphocytic leukemia.

Leukemia 2019 Jan 11. Epub 2019 Jan 11.

Hematology Unit, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41375-018-0344-1DOI Listing
January 2019
1 Read

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.

Clin Immunol 2019 Jan 7;200:16-18. Epub 2019 Jan 7.

Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Immunology, University Hospital Zurich, Switzerland; Faculty of Medicine, University of Zurich, Zurich, Switzerland. Electronic address:

Severe combined immunodeficiency (SCID) can be caused by deleterious mutations in DCLRE1C, leading to deficient non-homologous end joining by compromising the function of the Artemis protein. This impairs the process of V(D)J recombination of the T- and B-cell receptors and typically results in radiosensitive T, B, NK SCID presenting during the first months of life. We present a case of a 3-year-old girl with two novel compound heterozygous variants in DCLRE1C (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2018.12.019DOI Listing
January 2019
3 Reads

Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes.

J Clin Immunol 2019 Jan 10;39(1):23-25. Epub 2019 Jan 10.

Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-0591-6DOI Listing
January 2019
1 Read

Plerixafor for the Treatment of WHIM Syndrome.

N Engl J Med 2019 01;380(2):163-170

From the Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (D.H.M., D.V., E.C., Q.L., P.M.M.), the Laboratories of Cellular Oncology (D.V.P., C.B.B.) and Pathology (S.P.), National Cancer Institute, the Department of Laboratory Medicine, Clinical Center (K.R.C.), the National Institute of Dental and Craniofacial Research (P.J.G.), and the National Institute on Deafness and Other Communication Disorders (D.A.B.), National Institutes of Health, and Kozloff and Trout MDs (H.H.T.), Bethesda, MD; the Infectious Diseases Unit and Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Pediatric University Hospital (J.F.N.), and Centro de Imunodeficiências Primárias, Academic Medical Center of Lisbon (S.L.S.), Lisbon, Portugal; and the University of Chicago Medical Center, Chicago (E.A.B., E.M.L.).

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1808575DOI Listing
January 2019
1 Read

Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.

Front Immunol 2018 18;9:2984. Epub 2018 Dec 18.

Immunology Outpatient Clinic, Vienna, Austria.

B cell activation via the B cell receptor (BCR) signalosome involves participation of signaling molecules such as BTK and BLNK. Genetic defects in these molecules are known to impair B cell differentiation and subsequently lead to agammaglobulinemia. Here we identified novel mutations in BTK and BLNK in two unrelated patients that perturb the intrinsic B-cell receptor signaling pathway and lead to selective IgM deficiency, whereas production of other immunoglobulin isotypes and IgG antibody response remain intact. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2018.02984
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.02984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305442PMC
December 2018
6 Reads

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

J Clin Immunol 2019 Jan 3;39(1):81-89. Epub 2019 Jan 3.

Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA, USA.

The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1). Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0581-0
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0581-0DOI Listing
January 2019
6 Reads

Hypogammaglobulinaemia and other causes of death in neonatal lambs.

Authors:

Vet Rec 2019 Jan;184(1):17-18

This focus article has been prepared by , veterinary lead of the APHA's Small Ruminant Expert Group. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/vr.l24DOI Listing
January 2019
1 Read

Hypogammaglobulinaemia can be an important clinical problem after B-cell-targeted therapies.

Clin Microbiol Infect 2018 Dec 27. Epub 2018 Dec 27.

Department of Pathology, Sidra Medical and Research Center, Qatar. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cmi.2018.12.025DOI Listing
December 2018
11 Reads

Recommendations for the management of secondary hypogammaglobulinaemia due to B cell targeted therapies in autoimmune rheumatic diseases.

Rheumatology (Oxford) 2018 Dec 26. Epub 2018 Dec 26.

Department of Pathology, Sidra Medicine, Doha, Qatar.

Objectives: The association of B cell targeted therapies with development of hypogammaglobulinaemia and infection is increasingly recognized. Our aim was to develop consensus recommendations for immunoglobulin replacement therapy for management of hypogammaglobulinaemia following B cell targeted therapies in autoimmune rheumatic diseases.

Methods: A modified Delphi exercise involved a 17-member Taskforce committee, consisting of immunologists, rheumatologists, nephrologists, haematologists, a gastroenterologist, an immunology specialist nurse and a patient representative. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/rheumatology/advance-article/doi/10
Publisher Site
http://dx.doi.org/10.1093/rheumatology/key394DOI Listing
December 2018
15 Reads
4.475 Impact Factor

Adaptive Immunodeficiency in WHIM Syndrome.

Int J Mol Sci 2018 Dec 20;20(1). Epub 2018 Dec 20.

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892, USA.

Cysteine-X-cysteine chemokine receptor 4 (CXCR4) is a broadly expressed and multifunctional G protein-coupled chemokine receptor critical for organogenesis, hematopoiesis, and antimicrobial host defense. In the hematopoietic system, the binding of CXCR4 to its cognate chemokine ligand, CXCL12, mediates leukocyte trafficking, distribution, survival, activation, and proliferation. Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, autosomal dominant, combined immunodeficiency disorder caused by mutations in the -terminus of CXCR4 that prevent receptor downregulation and therefore result in pathologically increased signaling. Read More

View Article

Download full-text PDF

Source
http://www.mdpi.com/1422-0067/20/1/3
Publisher Site
http://dx.doi.org/10.3390/ijms20010003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337672PMC
December 2018
14 Reads

Non-motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-motor Systems.

Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Department of Neurology, Brain Science Centre, Sapporo City General Hospital, Japan.

To explore non-motor comorbidities of myasthenia gravis (MG), we present two cases of thymoma-associated MG patients. Alopecia, pure red cell aplasia, and thymoma- associated multiorgan autoimmunity were observed in Case 1, and alopecia, thrombocytopenia, hypogammaglobulinemia and nephrotic syndrome were observed in Case 2. In both cases, autoreactive T lymphocytes inappropriately stimulated by thymus tissue may have played key roles in generating the various autoimmune-associated symptoms. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.1990-18DOI Listing
December 2018
1 Read

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

Immunol Rev 2019 Jan;287(1):186-201

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

Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/imr.12701DOI Listing
January 2019
1 Read

What did we learn from CTLA-4 insufficiency on the human immune system?

Immunol Rev 2019 Jan;287(1):33-49

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

Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) is a negative immune regulator constitutively expressed on regulatory T (Treg) cells and upregulated on activated T cells. CTLA-4 inhibits T cell activation by various suppressive functions including competition with CD28, regulation of the inhibitory function of Treg cells, such as transendocytosis, and the control of adhesion and motility. Intrinsic CTLA-4 signaling has been controversially discussed, but so far no distinct signaling pathway has been identified. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/imr.12721
Publisher Site
http://dx.doi.org/10.1111/imr.12721DOI Listing
January 2019
10 Reads

WHIM syndrome: Immunopathogenesis, treatment and cure strategies.

Immunol Rev 2019 Jan;287(1):91-102

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from heterozygous gain-of-function mutations in the chemokine receptor CXCR4 which is widely expressed on leukocytes and has profound influences on immune system homeostasis and organogenesis. New treatments for the disease using drugs to reduce CXCR4 function are excellent examples of precision medicine. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/imr.12719
Publisher Site
http://dx.doi.org/10.1111/imr.12719DOI Listing
January 2019
7 Reads

An unusual presentation of a patient with severe hypogammaglobulinemia.

Clin Case Rep 2018 Dec 26;6(12):2416-2423. Epub 2018 Oct 26.

Department of Medical Microbiology and Immunology St. Antonius Hospital Nieuwegein The Netherlands.

We present a patient who was diagnosed with severe hypogammaglobulinemia after her newborn child presented with two episodes of meningitis. The patient had no history or symptoms suggestive of immunodeficiency. Thus far, a cause for the immunodeficiency has not been found, even after extensive immunological evaluation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293131PMC
December 2018
1 Read

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Front Immunol 2018 4;9:2756. Epub 2018 Dec 4.

Seattle Children's Research Institute, Seattle, WA, United States.

Primary immunodeficiency disorders (PIDD) comprise a group of life-threatening congenital diseases characterized by absent or impaired immune responses. Despite the fact that effective, curative treatments are available with optimal clinical outcomes when diagnosed early, newborn screening does not exist for the majority of these diseases due to the lack of detectable, specific biomarkers or validated methods for population-based screening. Peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) is a sensitive proteomic assay, involving antibody-mediated peptide capture, that allows for concurrent quantification of multiple analytes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.02756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288356PMC
December 2018
2 Reads

Concomitant diagnosis of immune deficiency and sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Cold Spring Harb Mol Case Stud 2018 Dec 17;4(6). Epub 2018 Dec 17.

Division of Infectious Disease, Department of Pediatrics, UCSD, San Diego, California 92093, USA.

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase () gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient that presented with ecthyma gangrenosum and septicemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a003244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318772PMC
December 2018
1 Read

Metagenomic Discovery of 83 New Human Papillomavirus Types in Patients with Immunodeficiency.

mSphere 2018 12 12;3(6). Epub 2018 Dec 12.

Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, Maryland, USA.

Several immunodeficiencies are associated with high susceptibility to persistent and progressive human papillomavirus (HPV) infection leading to a wide range of cutaneous and mucosal lesions. However, the HPV types most commonly associated with such clinical manifestations in these patients have not been systematically defined. Here, we used virion enrichment, rolling circle amplification, and deep sequencing to identify circular DNA viruses present in skin swabs and/or wart biopsy samples from 48 patients with rare genetic immunodeficiencies, including patients with warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome, or epidermodysplasia verruciformis (EV). Read More

View Article

Download full-text PDF

Source
http://msphere.asm.org/lookup/doi/10.1128/mSphereDirect.0064
Publisher Site
http://dx.doi.org/10.1128/mSphereDirect.00645-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291628PMC
December 2018
14 Reads

Detrimental Association of Hypogammaglobulinemia With Chronic Lung Allograft Dysfunction and Death Is Not Mitigated by On-Demand Immunoglobulin G Replacement After Lung Transplantation.

Prog Transplant 2018 Dec 11:1526924818817028. Epub 2018 Dec 11.

2 Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

Background:: Hypogammaglobulinemia (HGG), immunoglobulin G (IgG) <700 mg/dL, is associated with infections, chronic lung allograft dysfunction, and death following lung transplantation. This study evaluates the use of on-demand intravenous IgG in lung transplant recipients with HGG.

Materials And Methods:: This single-center retrospective cohort study of adult lung recipients evaluated 3 groups, no, untreated (u), or treated (t) HGG at first IgG administration or a matched time posttransplant. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1526924818817028DOI Listing
December 2018
2 Reads

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/trf.15020DOI Listing
December 2018
1 Read

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation.

Transl Oncol 2019 Feb 30;12(2):361-367. Epub 2018 Nov 30.

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S19365233183047
Publisher Site
http://dx.doi.org/10.1016/j.tranon.2018.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277246PMC
February 2019
37 Reads

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.

J Clin Immunol 2018 Nov 3;38(8):847-853. Epub 2018 Dec 3.

Allergy and Immunology Section, Children's Specialized Hospital, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0569-9
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0569-9DOI Listing
November 2018
9 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20180668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279397PMC
December 2018
12 Reads

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1800102DOI Listing
January 2019
3 Reads

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

Eur J Haematol 2019 Feb 28;102(2):182-190. Epub 2018 Nov 28.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ejh.13190
Publisher Site
http://dx.doi.org/10.1111/ejh.13190DOI Listing
February 2019
4 Reads

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

View Article

Download full-text PDF

Source
http://www.microbiologyresearch.org/content/journal/jmmcr/10
Publisher Site
http://dx.doi.org/10.1099/jmmcr.0.005167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249428PMC
October 2018
11 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08898561183007
Publisher Site
http://dx.doi.org/10.1016/j.iac.2018.08.005DOI Listing
February 2019
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13223-018-0306-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236904PMC
November 2018
8 Reads