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https://www.readbyqxmd.com/read/28769069/autosomal-recessive-agammaglobulinemia-due-to-defect-in-%C3%AE-heavy-chain-caused-by-a-novel-mutation-in-the-ighm-gene
#1
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...
August 3, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28761297/pyoderma-gangrenosum-in-a-patient-with-x-linked-agammaglobulinemia
#2
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
https://www.readbyqxmd.com/read/28754963/transcriptome-profiling-of-monocytes-from-xla-patients-revealed-the-innate-immune-function-dysregulation-due-to-the-btk-gene-expression-deficiency
#3
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
https://www.readbyqxmd.com/read/28729230/x-linked-agammaglobulinaemia-outcomes-in-the-modern-era
#4
REVIEW
Ben Shillitoe, Andrew Gennery
Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. There is potential hope of earlier diagnosis with newborn screening, and a potential cure for these patients, in the form of gene therapy...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28718914/reduced-numbers-of-circulating-group-2-innate-lymphoid-cells-in-patients-with-common-variable-immunodeficiency
#5
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/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#6
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
#7
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/28497675/evaluation-of-pulmonary-complications-in-patients-with-primary-immunodeficiency-disorders
#8
M Reisi, G Azizi, F Kiaee, F Masiha, R Shirzadi, T Momen, H Rafiemanesh, N Tavakolinia, M Modaresi, A Aghamohammadi
Background. Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are defected. Moreover, affected patients are at high risk for developing recurrent infections, particularly pulmonary infections. The spectrum of pulmonary manifestations in PIDs is broad, and includes acute and chronic infection, structural abnormalities (eg, bronchiectasis), malignancy and dysregulated inflammation resulting in tissue damage. In this study, our aims are to evaluate pulmonary complications in PID patients...
May 2017: European Annals of Allergy and Clinical Immunology
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
#9
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/28365793/a-child-with-x-linked-agammaglobulinemia-and-kawasaki-disease-an-unusual-association
#10
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...
August 2017: Rheumatology International
https://www.readbyqxmd.com/read/28361711/receptor-guided-3d-qsar-studies-molecular-dynamics-simulation-and-free-energy-calculations-of-btk-kinase-inhibitors
#11
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/28347903/detoxification-of-hexavalent-chromate-by-growing-paecilomyces-lilacinus-xla
#12
Xingjian Xu, Lu Xia, Wenli Chen, Qiaoyun Huang
In the study, the capability of Paecilomyces lilacinus XLA (CCTCC: M2012135) to reduce Cr(6+) and its main antagonistic mechanisms to Cr(6+) were experimentally evaluated. Activated growing fungus XLA efficiently reduced over 90% Cr(6+) in the media with Cr(6+) concentration below 100 mg L(-1) at pH 6 after 14 days. After 1-day exposure to 100 mg L(-1) Cr(6+), nearly 50% of Cr(6+) was reduced. Moreover, SO4(2-) stimulated Cr(6+) reduction, whereas other interferential ions inhibited Cr(6+) reduction. The interaction mechanisms between XLA and Cr(6+) mainly involve biotransformation, biosorption, and bioaccumulation, as detected by electron microscopy and chemical methods...
June 2017: Environmental Pollution
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
#13
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
#14
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/28261296/gastrointestinal-disorders-next-to-respiratory-infections-as-leading-symptoms-of-x-linked-agammaglobulinemia-in-children-34-year-experience-of-a-single-center
#15
Malgorzata Pac, Ewa A Bernatowska, Jarosław Kierkuś, Józef P Ryżko, Joanna Cielecka-Kuszyk, Teresa Jackowska, Bożena Mikołuć
INTRODUCTION: Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA individuals. MATERIAL AND METHODS: Of 1563 patients with primary immunodeficiencies diagnosed in the Department of Immunology, the Children's Memorial Health Institute (CMHI), 66 boys had a provisional diagnosis of agammaglobulinemia...
March 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28236219/gastrointestinal-manifestations-in-x-linked-agammaglobulinemia
#16
Sara Barmettler, Iris M Otani, Jasmit Minhas, Roshini S Abraham, Yenhui Chang, Morna J Dorsey, Zuhair K Ballas, Francisco A Bonilla, Hans D Ochs, Jolan E Walter
PURPOSE: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored. METHODS: We present a case report of a family with two affected patients with XLA. Given the gastrointestinal involvement of the grandfather in this family, we performed a retrospective descriptive analysis of XLA patients with reported diagnoses of GI manifestations and inflammatory bowel disease (IBD) or enteritis registered at the United States Immunodeficiency Network, a national registry of primary immunodeficiencies...
April 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28216434/human-nacht-lrr-and-pyd-domain-containing-protein-3-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-through-bruton-tyrosine-kinase
#17
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) and Bruton tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively. NLRP3 senses exogenous and endogenous insults, leading to inflammasome activation, which occurs spontaneously in patients with Muckle-Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date, few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified, and clinically promising pharmacologic targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#18
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
August 5, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28018445/a-novel-btk-gene-mutation-c-82delc-p-arg28-alafs-5-in-a-korean-family-with-x-linked-agammaglobulinemia
#19
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28000208/when-to-initiate-immunoglobulin-replacement-therapy-igrt-in-antibody-deficiency-a-practical-approach
#20
REVIEW
S Jolles, H Chapel, J Litzman
Primary antibody deficiencies (PAD) constitute the majority of all primary immunodeficiency diseases (PID) and immunoglobulin replacement forms the mainstay of therapy for many patients in this category. Secondary antibody deficiencies (SAD) represent a larger and expanding number of patients resulting from the use of a wide range of immunosuppressive therapies, in particular those targeting B cells, and may also result from renal or gastrointestinal immunoglobulin losses. While there are clear similarities between primary and secondary antibody deficiencies, there are also significant differences...
June 2017: Clinical and Experimental Immunology
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