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Gesmar R S Segundo, Anh T V Nguyen, Huyen T Thuc, Le N Q Nguyen, Roger H Kobayashi, Hai T Le, Huong T M Le, Troy R Torgerson, Hans D Ochs
Background: New sequencing techniques have revolutionized the identification of the molecular basis of primary immunodeficiency disorders (PID) not only by establishing a gene-based diagnosis but also by facilitating defect-specific treatment strategies, improving quality of life and survival, and allowing factual genetic counseling. Because these techniques are generally not available for physicians and their patients residing in developing countries, collaboration with overseas laboratories has been explored as a possible, albeit cumbersome, strategy...
2018: Frontiers in Immunology
Hideharu Hagiya, Keigo Kimura, Isao Nishi, Hisao Yoshida, Norihisa Yamamoto, Yukihiro Akeda, Kazunori Tomono
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...
February 28, 2018: Internal Medicine
Simar Pal Singh, Floris Dammeijer, Rudi W Hendriks
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...
February 19, 2018: Molecular Cancer
Saliha Esenboga, Deniz Çagdas, Tuba T Ozgur, Pınar Gur Çetinkaya, Lutfiye M Turkdemir, Ozden Sanal, Mirjam VanDer Burg, İlhan Tezcan
INTRODUCTION: 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. OBJECTIVE: 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 analyze the phenotype-genotype correlation. MATERIALS AND METHODS: Thirty-two patients with XLA diagnosed between 1985-2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated...
February 9, 2018: Scandinavian Journal of Immunology
Kentaro Nishi, Toshinao Kawai, Mitsuru Kubota, Akira Ishiguro, Masafumi Onodera
No abstract text is available yet for this article.
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Jeroen D Langereis, Stefanie S Henriet, Saskia Kuipers, Corry M R Weemaes, Mirjam van der Burg, Marien I de Jonge, Michiel van der Flier
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...
January 15, 2018: Journal of Clinical Immunology
Eduardo Carrillo-Tapia, Elizabeth García-García, Norma Estela Herrera-González, Marco Antonio Yamazaki-Nakashimada, Aidee Tamara Staines-Boone, Nora Hilda Segura-Mendez, Selma Cecilia Scheffler-Mendoza, Patricia O Farrill-Romanillos, Maria E Gonzalez-Serrano, Juan Carloa Rodriguez-Alba, Leopoldo Santos-Argumedo, Laura Berron-Ruiz, Alejandro Sanchez-Flores, Gabriela López-Herrera
BACKGROUND: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations...
January 2018: Expert Review of Clinical Immunology
Paoyun Tang, Julia E M Upton, Michelle A Barton-Forbes, Marina I Salvadori, Meghan P Clynick, April K Price, Sharan L Goobie
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...
January 2018: Journal of Clinical Immunology
A Stubbs, C Bangs, B Shillitoe, J D Edgar, S O Burns, M Thomas, H Alachkar, M Buckland, E McDermott, G Arumugakani, M S Jolles, R Herriot, P D Arkwright
Immunoglobulin replacement therapy enhances survival and reduces infection risk in patients with agammaglobulinaemia. We hypothesized that despite regular immunoglobulin therapy, some patients will experience ongoing respiratory infections and develop progressive bronchiectasis with deteriorating lung function. One hundred and thirty-nine (70%) of 199 patients aged 1-80 years from nine cities in the United Kingdom with agammaglobulinaemia currently listed on the UK Primary Immune Deficiency (UKPID) registry were recruited into this retrospective case study and their clinical and laboratory features analysed; 94% were male, 78% of whom had Bruton tyrosine kinase (BTK) gene mutations...
February 2018: Clinical and Experimental Immunology
Marilia Pyles P Kanegae, Lucila Akune Barreiros, Jusley Lira Sousa, Marco Antônio S Brito, Edgar Borges de Oliveira, Lara Pereira Soares, Juliana Themudo L Mazzucchelli, Débora Quiorato Fernandes, Sonia Marchezi Hadachi, Silvia Maia Holanda, Flavia Alice T M Guimarães, Maura Aparecida P V V Boacnin, Marley Aparecida L Pereira, Joaquina Maria C Bueno, Anete Sevciovic Grumach, Regina Sumiko W Di Gesu, Amélia Miyashiro N Dos Santos, Newton Bellesi, Beatriz T Costa-Carvalho, Antonio Condino-Neto
OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA)...
January 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
Kirti Gupta, Amit Rawat, Parimal Agrawal, Ankur Jindal, Ritambhra Nada, Biman Saikia, Koon Wing Chan, Yu Lung Lau, Ranjana Walker Minz, Surjit Singh
BACKGROUND: Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. With the evolution of molecular diagnosis, many of these children are being diagnosed early and offered appropriate therapy...
September 28, 2017: Journal of Clinical Pathology
Nicolas Degand, Justine Dautremer, Benoît Pilmis, Agnès Ferroni, Fanny Lanternier, Julie Bruneau, Olivier Hermine, Stéphane Blanche, Xavier Nassif, Olivier Lortholary, Marc Lecuit
ᅟ: Helicobacter bilis is a commensal bacterium causing chronic hepatitis and colitis in mice. In humans, enterohepatic Helicobacter spp. are associated with chronic hepatobiliary diseases. PURPOSE: We aimed at understanding the microbial etiology in a patient with X-linked agammaglobulinemia presenting with suppurative cholangitis. METHODS: 16S rDNA PCR directly performed on a liver biopsy retrieved DNA of H. bilis. RESULTS: Clinical outcome resulted in the normalization of clinical and biological parameters under antibiotic treatment by a combination of ceftriaxone, metronidazole, and doxycyclin followed by a 2-week treatment with moxifloxacin and a 2-month treatment with azithromycin...
October 2017: Journal of Clinical Immunology
Dhrubajyoti Sharma, Aman Gupta, Shubham Goel, Madhubala Sharma, Amit Rawat, Surjit Singh
No abstract text is available yet for this article.
August 12, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
P Silva, A Justicia, A Regueiro, S Fariña, J M Couselo, L Loidi
Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Nearly 30% of ARA cases present mutations in the μ heavy constant region gene IGHM. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the μ heavy chain...
September 2017: Genes and Immunity
Qi Tan, Fa-Liang Ren, Hua Wang
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here we report PG in an 8-year-old patient with XLA. The patient received intravenous immunoglobulin treatment in conjunction with prednisone and topical application of 0...
August 2017: Annals of Dermatology
Hoda Mirsafian, Adiratna Mat Ripen, Wai-Mun Leong, Chai Teng Chear, Saharuddin Bin Mohamad, Amir Feisal Merican
X-linked agammaglobulinemia (XLA) is a rare genetic disorder, caused by mutations in BTK (Bruton's Tyrosine Kinase) gene. Deep high-throughput RNA sequencing (RNA-Seq) approach was utilized to explore the possible differences in transcriptome profiles of primary monocytes in XLA patients compared with healthy subjects. Our analysis revealed the differences in expression of 1,827 protein-coding genes, 95 annotated long non-coding RNAs (lncRNAs) and 20 novel lincRNAs between XLA patients and healthy subjects...
July 28, 2017: Scientific Reports
Christoph B Geier, Sophie Kraupp, David Bra, Martha M Eibl, Jocelyn R Farmer, Krisztian Csomos, Jolan E Walter, Hermann M Wolf
Recent studies identified an emerging role of group 2 and 3 innate lymphoid cells (ILCs) as key players in the generation of T-dependent and T-independent antibody production. In this retrospective case-control study, CD117+ ILCs (including the majority of ILC2 and ILC3) were reduced in patients with common variable immunodeficiency (CVID). The reduction in CD117+ ILCs was distinctive to CVID and could not be observed in patients with X-linked agammaglobulinemia. Patients with a more pronounced reduction in CD117+ ILC numbers showed significantly lower numbers of peripheral MZ-like B cells and an increased prevalence of chronic, non-infectious enteropathy...
November 2017: European Journal of Immunology
Katharina L Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist of prophylactic and supportive treatment of the recurrent infections. Here, we report the case of a 1-year-old boy of Moroccan consanguineous parents, who was diagnosed at 4 months of age with ICF syndrome with a homozygous missense mutation in the DNMT3B gene...
2017: Frontiers in Immunology
Gergely Krivan, Ludmila Chernyshova, Larysa Kostyuchenko, Andrzej Lange, Zoltan Nyul, Beata Derfalvi, Jacek Musial, Anne Bellon, Martin Kappler, Alain Sadoun, Ewa Bernatowska
This multicentre, open-label, prospective, single-arm study was designed to evaluate the efficacy, pharmacokinetics, and safety of IqYmune®, a highly purified 10% polyvalent immunoglobulin preparation for intravenous administration in patients with primary immunodeficiency. IqYmune® was administered to 62 patients (aged 2-61 years) with X-linked agammaglobulinemia or common variable immune deficiency at a dose from 0.22 to 0.97 g/kg every 3 to 4 weeks for 12 months with an infusion rate up to 8 mL/kg/h...
August 2017: Journal of Clinical Immunology
Masahiro Takeguchi, Seigo Korematsu, Hiroaki Miyahara, Shuji Kuga, Tatsuro Izumi
No abstract text is available yet for this article.
July 14, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
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