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Agammaglobulinemia

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https://www.readbyqxmd.com/read/28718914/reduced-numbers-of-circulating-group-2-innate-lymphoid-cells-in-patients-with-common-variable-immunodeficiency
#1
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 (XLA). 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...
July 18, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28713390/hematopoietic-stem-cell-transplantation-in-an-infant-with-immunodeficiency-centromeric-instability-and-facial-anomaly-syndrome
#2
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
https://www.readbyqxmd.com/read/28711959/a-multicentre-study-on-the-efficacy-safety-and-pharmacokinetics-of-iqymune%C3%A2-a-highly-purified-10-liquid-intravenous-immunoglobulin-in-patients-with-primary-immune-deficiency
#3
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...
July 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28707726/ivig-triggered-tubulointerstitial-nephritis-in-x-linked-agammaglobulinemia
#4
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
https://www.readbyqxmd.com/read/28705765/terminal-14q32-33-deletion-as-a-novel-cause-of-agammaglobulinemia
#5
Christoph B Geier, Alexander Piller, Martha M Eibl, Peter Ciznar, Denisa Ilencikova, Hermann M Wolf
Over the past decades, a pleiotropic spectrum of B-cell intrinsic defects leading to early onset agammaglobulinemia and absent B cells has been described. Herein we report terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. We describe a 20-year old man with a 1MB terminal 14q32.33 deletion resulting in a loss of the entire Immunoglobulin heavy chain gene region of chromosome 14. The patient presented with absent serum immunoglobulins levels and absent circulating B cells since age 2. The clinical picture was dominated by severe episodes of recurrent upper respiratory tract infections...
July 10, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28684198/flow-cytometry-based-diagnosis-of-primary-immunodeficiency-diseases
#6
REVIEW
Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and intranuclear proteins, biologic effects associated with specific immune defects, and certain functional immune characteristics, each being useful for the diagnosis and evaluation of PIDs...
July 3, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28628941/a-novel-cause-of-chronic-viral-meningoencephalitis-cache-valley-virus
#7
Michael R Wilson, Dan Suan, Andrew Duggins, Ryan D Schubert, Lillian M Khan, Hannah A Sample, Kelsey C Zorn, Aline Rodrigues Hoffman, Anna Blick, Meena Shingde, Joseph L DeRisi
OBJECTIVE: Immunodeficient patients are particularly vulnerable to neuroinvasive infections that can be challenging to diagnose. Metagenomic next-generation sequencing can identify unusual or novel microbes and is therefore well suited for investigating the etiology of chronic meningoencephalitis in immunodeficient patients. METHODS: We present the case of a 34 year-old man with X-linked agammaglobulinemia from Australia suffering from three years of meningoencephalitis that defied an etiologic diagnosis despite extensive conventional testing, including a brain biopsy...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#8
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28597144/multicolor-flow-cytometry-for-the-diagnosis-of-primary-immunodeficiency-diseases
#9
Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
PURPOSE: Primary immunodeficiency diseases (PIDDs) are rare inherited diseases that impair the human immune system. We established a multicolor flow cytometric assay to comprehensively evaluate the immune status and immunological characteristics of patients with PIDDs. METHODS: Fifty-nine normal controls and 75 patients with PIDDs, including X-linked severe combined immunodeficiency (X-SCID), X-linked agammaglobulinemia (XLA), X-linked hyper IgM syndrome (X-HIGM), ataxia telangiectasia (AT), Wiskott-Aldrich syndrome (WAS), hyper IgE syndrome (HIES), and chronic mucocutaneous candidiasis disease (CMCD), were enrolled in this study...
June 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28482391/-two-families-of-x-linked-lymphoproliferative-disease-type-1-characterized-by-agammaglobulinemia
#10
W Y Li, J S Chen, Q Zhao, R X Dai, Y P Wang, H Y Zhao, X M Chen, X H Xue, X Y Sun, X M Tang, Y Zhang, Y Ding, X D Zhao, Z Y Zhang
Objective: To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1). Method: Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. The absolute and relative numbers of lymphocyte subsets, T lymphocyte proliferative response, SAP protein expression were assessed by flow cytometry...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28434577/50-years-ago-in-the-journal-of-pediatrics-thymic-dysplasia-swiss-agammaglobulinemia-i-graft-versus-host-reaction-following-bone-marrow-transfusion
#11
Emily Heikamp, Caridad Martinez
No abstract text is available yet for this article.
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28422989/the-lack-of-btk-does-not-impair-monocytes-and-polymorphonuclear-cells-functions-in-x-linked-agammaglobulinemia-under-treatment-with-intravenous-immunoglobulin-replacement
#12
Filomena Monica Cavaliere, Alessandro Prezzo, Caterina Bilotta, Metello Iacobini, Isabella Quinti
The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes and PMN had a normal expression of receptors involved in the activation and cellular responses. We demonstrate that BTK is not required for migration, phagocytosis and the production of reactive oxygen species (ROS) following engagement of FC gamma receptors (FcγR)...
2017: PloS One
https://www.readbyqxmd.com/read/28398200/pseudomonas-aeruginosa-liver-abscess-as-the-first-manifestation-of-x-linked-agammaglobulinemia-with-a-novel-mutation
#13
M A Muñoz-Miguelsanz, T Álvarez Morales, J A Martín García, M Martínez Gallo, J L Santos Pérez
No abstract text is available yet for this article.
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28365793/a-child-with-x-linked-agammaglobulinemia-and-kawasaki-disease-an-unusual-association
#14
REVIEW
Dhrubajyoti Sharma, Sandesh Guleria, Deepti Suri, Amit Rawat, Ravinder Garg, Surjit Singh
An association of X-linked agammaglobulinemia (XLA) with Kawasaki disease (KD) is very uncommon. Only two case reports are available so far in pediatric literature. Patients with XLA have recurrent infections and physical examination have absent lymph nodes and tonsils. Laboratory investigations reveal hypogammaglobulinemia and reduced or absent B cells on flow cytometry. KD is a medium vessel vasculitis. Here, we report a 12 year old boy with X-linked agammaglobulinemia on regular replacement intravenous immunoglobulin who developed KD on follow-up...
April 1, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28362905/nitazoxanide-is-an-ineffective-treatment-of-chronic-norovirus-in-patients-with-x-linked-agammaglobulinemia-and-may-yield-false-negative-polymerase-chain-reaction-findings-in-stool-specimens
#15
Bjoern Kempf, J David Edgar, Conall Mc Caughey, Lisa A Devlin
No abstract text is available yet for this article.
February 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28361711/receptor-guided-3d-qsar-studies-molecular-dynamics-simulation-and-free-energy-calculations-of-btk-kinase-inhibitors
#16
Pavithra K Balasubramanian, Anand Balupuri, Hee-Young Kang, Seung Joo Cho
BACKGROUND: Bruton tyrosine kinase (Btk) plays an important role in B-cell development, differentiation, and signaling. It is also found be in involved in male immunodeficiency disease such as X-linked agammaglobulinemia (XLA). Btk is considered as a potential therapeutic target for treating autoimmune diseases and hematological malignancies. RESULTS: In this work, a combined molecular modeling study was performed on a series of thieno [3,2-c] pyridine-4-amine derivatives as Btk inhibitors...
March 14, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28321612/serial-serum-immunoglobulin-g-igg-trough-levels-in-patients-with-x-linked-agammaglobulinemia-on-replacement-therapy-with-intravenous-immunoglobulin-its-correlation-with-infections-in-indian-children
#17
Deepti Suri, Sagar Bhattad, Avinash Sharma, Anju Gupta, Amit Rawat, Shobha Sehgal, Surjit Singh, Sudhir Gupta
Patients with primary antibody deficiency (PAD) are being increasingly diagnosed in the developing world. However, care of these children continues to remain suboptimal due to financial and social constraints. Immunoglobulin (Ig) trough level is an important predicting factor for infections in children on replacement immunoglobulin therapy. There are no data on this aspect from the developing world. Therefore, we studied serial immunoglobulin G (IgG) trough levels in 14 children with X-linked agammaglobulinemia (XLA) receiving replacement intravenous immunoglobulin (IVIG)...
April 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28304004/x-linked-agammaglobulinemia-first-case-with-bruton-tyrosine-kinase-mutation-from-pakistan
#18
Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#19
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
April 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28275140/antibody-independent-function-of-human-b-cells-contributes-to-antifungal-t-cell-responses
#20
Rui Li, Ayman Rezk, Hulun Li, Jennifer L Gommerman, Alexandre Prat, Amit Bar-Or
Fungal infections (e.g., Candida albicans) can manifest as serious medical illnesses, especially in the elderly and immune-compromised hosts. T cells are important for Candida control. Whether and how B cells are involved in antifungal immunity has been less clear. Although patients with agammaglobulinemia exhibit normal antifungal immunity, increased fungal infections are reported following B cell-depleting therapy, together pointing to Ab-independent roles of B cells in controlling such infections. To test how human B cells may contribute to fungal-associated human T cell responses, we developed a novel Ag-specific human T cell/B cell in vitro coculture system and found that human B cells could induce C...
March 8, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
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