Database : MEDLINE
Search on : Agammaglobulinemia [Words]
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[PMID]: 29424453
[Au] Autor:Esenboga S; Cagdas D; Ozgur TT; Gur Cetinkaya P; Turkdemir LM; Sanal O; VanDerBurg M; Tezcan I
[Ad] Address:Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
[Ti] Title:Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
[So] Source:Scand J Immunol;87(3), 2018 Mar.
[Is] ISSN:1365-3083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated. A clinical survey including clinical features of the patients was completed, and thirty-two patients from 26 different families were included in the study. Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patients with XLA. Early molecular analysis gives chance for definitive diagnosis and genetic counselling, but not for predicting the clinical severity and prognosis.
[Mh] MeSH terms primary: Agammaglobulinemia/diagnosis
Agammaglobulinemia/genetics
Antibodies/blood
Genetic Diseases, X-Linked/diagnosis
Genetic Diseases, X-Linked/genetics
Protein-Tyrosine Kinases/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Agammaglobulinemia/pathology
Bacterial Infections/immunology
Child
Child, Preschool
Genetic Diseases, X-Linked/pathology
Humans
Immunoglobulin A/blood
Immunoglobulin G/blood
Immunoglobulin M/blood
Infant
Retrospective Studies
Turkey
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Antibodies); 0 (Immunoglobulin A); 0 (Immunoglobulin G); 0 (Immunoglobulin M); EC 2.7.10.1 (Agammaglobulinaemia tyrosine kinase); EC 2.7.10.1 (Protein-Tyrosine Kinases)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180210
[St] Status:MEDLINE
[do] DOI:10.1111/sji.12647

  2 / 5684 MEDLINE  
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[PMID]: 29335801
[Au] Autor:Langereis JD; Henriet SS; Kuipers S; Weemaes CMR; van der Burg M; de Jonge MI; van der Flier M
[Ad] Address:Section Pediatric Infectious Diseases, Laboratory of Medical Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Jeroen.Langereis@radboudumc.nl.
[Ti] Title:IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation.
[So] Source:J Clin Immunol;38(2):185-192, 2018 Feb.
[Is] ISSN:1573-2592
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists. Especially patients with IgM deficiency remain at risk for recurrent infections of the gastrointestinal and respiratory tract. The lack of IgM in the current IgG replacement therapy is likely to contribute to the persistence of these mucosal infections because this antibody class is especially important for complement activation on the mucosal surface. We evaluated whether supplementation with IgM increased serum bactericidal capacity in vitro. Serum was collected from a patient with agammaglobulinemia and supplemented with purified serum IgM to normal levels. Antibody and complement deposition on the bacterial surface was determined by multi-color flow cytometry. Bacterial survival in serum was determined by colony-forming unit counts. We present a patient previously diagnosed with agammaglobulinemia due to CD79A (Igα) deficiency revealing a novel pathogenic insertion variant in the CD79a gene (NM_001783.3:c.353_354insT). Despite IgG replacement therapy and antibiotic prophylaxis, this patient developed a Campylobacter jejuni spondylodiscitis of lumbar vertebrae L4-L5. We found that serum IgM significantly contributes to complement activation on the bacterial surface of C. jejuni. Furthermore, supplementation of serum IgM augmented serum bactericidal activity significantly. In conclusion, supplementation of intravenous IgG replacement therapy with IgM may potentially offer greater protection against bacterial infections, also in the context of increasing antibiotic resistance.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1007/s10875-017-0474-7

  3 / 5684 MEDLINE  
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[PMID]: 29491300
[Au] Autor:Hagiya H; Kimura K; Nishi I; Yoshida H; Yamamoto N; Akeda Y; Tomono K
[Ad] Address:Division of Infection Control and Prevention, Osaka University Hospital, Japan.
[Ti] Title:Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia.
[So] Source:Intern Med;, 2018 Feb 28.
[Is] ISSN:1349-7235
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:We herein report a case of recurrent Campylobacter coli bacteremia in a 37-year-old Japanese man with X-linked agammaglobulinemia (XLA). The patient experienced seven episodes of C. coli bacteremia over one year, with an erythematous rash intermittently emerged on the lower limbs. Although hospitalization for intravenous treatment was repeatedly recommended, he obstinately declined it. Following long-term oral antibiotic treatment with tebipenem and faropenem for the persistent infection, C. coli showed elevated minimum inhibitory concentrations to meropenem, a key drug for severe campylobacteriosis. Physicians should note that the overuse of antibiotics can lead to the emergence of carbapenem-non-susceptible Campylobacter strains.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.2169/internalmedicine.0312-17

  4 / 5684 MEDLINE  
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[PMID]: 29455639
[Au] Autor:Pal Singh S; Dammeijer F; Hendriks RW
[Ad] Address:Department of Pulmonary Medicine, Room Ee2251a, Erasmus MC Rotterdam, PO Box 2040, NL 3000, CA, Rotterdam, The Netherlands.
[Ti] Title:Role of Bruton's tyrosine kinase in B cells and malignancies.
[So] Source:Mol Cancer;17(1):57, 2018 Feb 19.
[Is] ISSN:1476-4598
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor activity, first in animal models and subsequently in clinical studies. In particular, the orally administered irreversible BTK inhibitor ibrutinib is associated with high response rates in patients with relapsed/refractory chronic lymphocytic leukemia (CLL) and mantle-cell lymphoma (MCL), including patients with high-risk genetic lesions. Because ibrutinib is generally well tolerated and shows durable single-agent efficacy, it was rapidly approved for first-line treatment of patients with CLL in 2016. To date, evidence is accumulating for efficacy of ibrutinib in various other B cell malignancies. BTK inhibition has molecular effects beyond its classic role in BCR signaling. These involve B cell-intrinsic signaling pathways central to cellular survival, proliferation or retention in supportive lymphoid niches. Moreover, BTK functions in several myeloid cell populations representing important components of the tumor microenvironment. As a result, there is currently a considerable interest in BTK inhibition as an anti-cancer therapy, not only in B cell malignancies but also in solid tumors. Efficacy of BTK inhibition as a single agent therapy is strong, but resistance may develop, fueling the development of combination therapies that improve clinical responses. In this review, we discuss the role of BTK in B cell differentiation and B cell malignancies and highlight the importance of BTK inhibition in cancer therapy.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1186/s12943-018-0779-z

  5 / 5684 MEDLINE  
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[PMID]: 29381958
[Au] Autor:Baez-Pravia OV; Díaz-Cámara M; De La Sen O; Pey C; Ontañón Martín M; Jimenez Hiscock L; Morató Bellido B; Córdoba Sánchez ÁL
[Ad] Address:Intensive Care Unit.
[Ti] Title:Should we consider IgG hypogammaglobulinemia a risk factor for severe complications of Ludwig angina?: A case report and review of the literature.
[So] Source:Medicine (Baltimore);96(47):e8708, 2017 11.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Cervical necrotizing fasciitis (CNF) and descending necrotizing mediastinitis (DNM) are rare forms of complication of Ludwig angina. These potentially lethal infections are difficult to recognize in early stages and are often associated with predisposing factors like diabetes and immunocompromised states. Moreover, IgG hypogammaglobulinemia (hypo-IgG) is considered to be a risk factor of mortality in patients with septic shock; however, it is not routinely quantified in patients with extremely serious infections, particularly in cases with no history or evidence of immunocompromising disorders. PATIENT CONCERNS: We present a case of a 58-year-old woman who survived Ludwig angina, complicated by CNF and DNM. Despite a rapid diagnosis, aggressive surgical debridement and broad-spectrum antibiotics, the infection and necrosis advanced, requiring multiple surgical interventions and long intensive care unit (ICU) support. CONCLUSION: We hypothesize that detecting a low level of endogenous IgG and treating with adjuvant passive immunotherapy was key in determining a favorable outcome.
[Mh] MeSH terms primary: Agammaglobulinemia/complications
Fasciitis, Necrotizing/etiology
Immunoglobulin G
Ludwig´s Angina/complications
Mediastinitis/etiology
[Mh] MeSH terms secundary: Anti-Bacterial Agents/therapeutic use
Debridement
Dental Implants/adverse effects
Fasciitis, Necrotizing/therapy
Humans
Ludwig's Angina/etiology
Mediastinitis/therapy
Middle Aged
Neck
Risk Factors
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Anti-Bacterial Agents); 0 (Dental Implants); 0 (Immunoglobulin G)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008708

  6 / 5684 MEDLINE  
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[PMID]: 29421957
[Au] Autor:Yildirim M; Ayvaz DC; Konuskan B; Gocmen R; Tezcan I; Topcu M; Topaloglu H; Anlar B
[Ad] Address:1 Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
[Ti] Title:Neurologic Involvement in Primary Immunodeficiency Disorders.
[So] Source:J Child Neurol;:883073817754176, 2018 Jan 01.
[Is] ISSN:1708-8283
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The nervous system may be affected in primary immune deficiency (PID) syndromes through infectious, autoimmune, neoplastic mechanisms, or as a primary feature of the syndrome. However certain neurologic problems do not conform to these etiopathogenetic groups. We retrospectively examined PID patients seen in neurology consultation between 2014 and 2017 in order to determine the spectrum of nervous system involvement. Among patients with confirmed neurologic problems (n = 35), common manifestations were encephalopathy and global developmental/cognitive delay. In 13 (37%) instances, the neurologic signs had no apparent relation with a treatment-related, infectious, or vascular complication and were considered as primary findings: acquired microcephaly, central nervous system malformation, or peripheral neuropathy. The diagnosis of PID was made after, and based on, the neurologic manifestation in 6 of 35 (17%) patients. Neurologic presentation may constitute the initial manifestation in some types of primary immune deficiency.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:Publisher
[do] DOI:10.1177/0883073817754176

  7 / 5684 MEDLINE  
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[PMID]: 29356289
[Au] Autor:Nishi K; Kawai T; Kubota M; Ishiguro A; Onodera M
[Ad] Address:Department of Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.
[Ti] Title:X-linked agammaglobulinemia complicated with pulmonary aspergillosis.
[So] Source:Pediatr Int;60(1):90-92, 2018 Jan.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1111/ped.13453

  8 / 5684 MEDLINE  
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[PMID]: 29307603
[Au] Autor:Shaker M; Lorigiano TJ; Lucas A; Devitskiy S; Chen Y; Christensen B
[Ad] Address:Section of Allergy and Clinical Immunology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire. Electronic address: Marcus.Shaker@dartmouth.edu.
[Ti] Title:An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.
[So] Source:Ann Allergy Asthma Immunol;120(2):215-217, 2018 Feb.
[Is] ISSN:1534-4436
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Data-Review

  9 / 5684 MEDLINE  
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[PMID]: 29178053
[Au] Autor:Tang P; Upton JEM; Barton-Forbes MA; Salvadori MI; Clynick MP; Price AK; Goobie SL
[Ad] Address:Department of Pediatrics, London Health Science Centre, 800 Commissioners Road East, London, ON, N6A 5W9, Canada.
[Ti] Title:Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.
[So] Source:J Clin Immunol;38(1):88-95, 2018 Jan.
[Is] ISSN:1573-2592
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in PIK3R1, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the PlK3R1 gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171228
[Lr] Last revision date:171228
[St] Status:In-Data-Review
[do] DOI:10.1007/s10875-017-0462-y

  10 / 5684 MEDLINE  
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[PMID]: 29216227
[Au] Autor:Sørrig R; Klausen TW; Salomo M; Vangsted AJ; Frølund UC; Andersen KT; Klostergaard A; Helleberg C; Pedersen RS; Pedersen PT; Helm-Petersen S; Teodorescu EM; Preiss B; Abildgaard N; Gimsing P; Danish Myeloma Study Group
[Ad] Address:Department of Hematology, Rigshospitalet, Copenhagen, Denmark.
[Ti] Title:Immunoparesis in newly diagnosed Multiple Myeloma patients: Effects on overall survival and progression free survival in the Danish population.
[So] Source:PLoS One;12(12):e0188988, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Immunoparesis (hypogammaglobulinemia) is associated to an unfavorable prognosis in newly diagnosed Multiple myeloma (MM) patients. However, this finding has not been validated in an unselected population-based cohort. We analyzed 2558 newly diagnosed MM patients in the Danish Multiple Myeloma Registry representing the entire MM population in Denmark from 2005-2013. Two-thousand two hundred and fifty three patients (90%) presented with reduction below lower normal levels of at least one uninvolved immunoglobulin. Using multivariable Cox regression we found that high age, high ISS score, high LDH and IgA MM were associated to both shorter overall survival and progression free survival. Furthermore, bone marrow plasma cell % was associated to short progression free survival. Immunoparesis had no independent significant effect on OS (HR 0.9 (95%CI: 0.7;1.0; p = 0.12)). Likewise, the number of suppressed immunoglobulins or the relative degree of suppressed uninvolved immunoglobulins from lower normal level (quantitative immunoparesis) was not associated to OS in the multivariable analysis. However, quantitative immunoparesis with at least 25% reduction (from lower normal level) of uninvolved immunoglobulins was associated to shorter PFS for the entire population. The impact of quantitative immunoparesis on PFS was present irrespective of calendar periods 2005-2008 and 2009-2013. Our population-based study does not confirm that immunoparesis at diagnosis is an independent prognostic factor regarding OS. However, quantitative immunoparesis is associated to a shorter PFS.
[Mh] MeSH terms primary: Agammaglobulinemia/complications
Multiple Myeloma/complications
Survival Analysis
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Denmark
Female
Humans
Male
Middle Aged
Multiple Myeloma/diagnosis
Prognosis
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171226
[Lr] Last revision date:171226
[Js] Journal subset:IM
[Da] Date of entry for processing:171208
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0188988


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