AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
AgammaglobulinemiaGenetic Diseases, X-LinkedX ChromosomeProtein-Tyrosine KinasesB-LymphocytesGenetic LinkageImmunologic Deficiency SyndromesImmunoglobulin delta-ChainsIgG DeficiencyEcthymaCampylobacter lariReceptors, Antigen, B-CellHelicobacterImmunoglobulins, IntravenousChromosomes, Human, XDosage Compensation, GeneticCommon Variable ImmunodeficiencyPedigreeMutationImmunoglobulin MImmunoglobulinsLymphocyte CountEncyclopedias as Topic
HypogammaglobulinemiaBruton AgammaglobulinemiaCongenitalInfectionRecurrent bacterial infectionsGamma globulinSCIDImmune systemAutoimmune diseasesDisordersGeneGenesOMIMSymptoms2017ComplicationsPatientsDiagnosis and TreatmentSyndromeVariantsBacterial infectionsInfectionsLymphopeniaPrimary Immune Deficiency DMutationInheritanceTherapeuticSynonymsVenereal diseasesCommunicable diseasesRegistryInfectiousChronic DiseaseImmunoglobulinsCentersAdolescentLiverAbsentGenetic disorderThrombocytopeniaLymphoidClinical
Hypogammaglobulinemia2
  • Some physicians advocate using brain MRI in patients with agammaglobulinemia or hypogammaglobulinemia who develop unexplained neurological symptoms and signs of meningeal inflammation despite extensive investigation of cerebral spinal fluid (CSF), including polymerase chain reaction (PCR) analyses. (medscape.com)
  • An array of diseases such as Wiskott-Aldrich's syndrome, ataxia telangiectasia, common variable hypogammaglobulinemia, and Bruton's agammaglobulinemia were very important in defining not only what makes the immune system work normally, but also the consequences to the patient of immune errors. (nih.gov)
Bruton Agammaglobulinemia6
Congenital3
  • We knew profound lymphocytopenia as a genetic congenital error-severe combined immunodeficiency disease, SCID, of infancy-an error in which patients could not make an antibody or cellular immune response. (nih.gov)
  • 121 Mendelian pathogenic or likely pathogenic variants associated with 31 inherited diseases were detected, among these hearing loss, congenital hypothyroidism, methylmalonic acidemia, methylmalonic acidemia with homocystinuria, phenylketonuria(PKU) and benign hyperphenylalaninemia accounted for half of the carrier variants. (researchsquare.com)
  • The American Society of Hematology defines it as an isolated thrombocytopenia with clinically no apparent associated conditions or no other cause of thrombocytopenia, such as HIV infection, systemic lupus erythematosus, lymphoproliferative disorders, myelodysplasia, agammaglobulinaemia or hypogammaglobulinaemia, drug-induced thrombocytopenia, alloimmune thrombocytopenia or congenital/hereditary non-immune thrombocytopenia [7]. (who.int)
Infection5
  • X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. (wikipedia.org)
  • The most common secondary complications of XLA are chronic sinusitis, chronic lung disease, inflammatory bowel disease, and enteroviral infection. (nih.gov)
  • Research has shown that poor nutrition and potential starvation compromises the lymphatic system, making the body more vulnerable to infection and disease. (nativeremedies.com)
  • Males with this disease have very low levels of infection-fighting proteins called antibodies. (sciencedaily.com)
  • Immune-related gastrointestinal diseases can be classified as those that develop primarily via autoimmunity, infection, an inflammatory response, or malignancy. (medscape.com)
Recurrent bacterial infections2
  • X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. (nih.gov)
  • IgA more than 2 SD below normal for age Absent isohemagglutinins Spectrum of disease Most patients with XLA develop recurrent bacterial infections , particularly otitis, sinusitis and pneumonia, in the first two years of life. (symptoma.com)
Gamma globulin2
  • Agammaglobulinemia means an absence of gamma globulin in the blood. (mbbch.com)
  • With X-linked agammaglobulinemia , or XLA for short, gamma globulin is another name for immunoglobulin, which is another name for antibodies, a- means without, and -emia refers to the blood. (osmosis.org)
SCID1
  • These immune deficiency diseases are thought to be rare and include: Severe combined immunodeficiency (SCID), leukocyte adhesion deficiency (LAD), X-linked Agammaglobulinemia (XLA), common variable immune deficiency (CVID), DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). (mayo.edu)
Immune system5
  • X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. (medlineplus.gov)
  • in 1993, Dr. Witte discovered a previously unknown gene, Bruton's tyrosine kinase (Btk), while studying X-linked agammaglobulinemia (XLA), an often fatal genetic disease that weakens the immune system. (aamc.org)
  • It was the very first disease of the immune system ever discovered. (mbbch.com)
  • Primary immunodeficiencies (PID) are diseases that affect any part of multiple components of the immune system, resulting in abnormal and/or impaired immune responses and increased susceptibility to life threatening infections, autoimmune disease and neoplasias. (mayo.edu)
  • X-linked agammaglobulinemia (XLA) is an x-linked genetic disorder of the immune system caused by mutations in the BTK (Bruton's tyrosine kinase) gene. (osmosis.org)
Autoimmune diseases2
  • Around a quarter of people with CVID have autoimmune diseases. (edu.au)
  • Recognizing that the genetic cause for XLA might contribute to lymphomas and other autoimmune diseases, Dr. Witte continued to work with Btk. (aamc.org)
Disorders5
  • They are sometimes referred to as rheumatic diseases, connective tissue disorders, or collagen vascular disorders. (ssa.gov)
  • The clinical manifestations of diseases in any one of the three groups may be difficult to distinguish, but this grouping can provide a framework with which to proceed in evaluating patients with known or suspected lymphocyte and plasma cell disorders. (mhmedical.com)
  • Gastrointestinal disorders such as chronic or acute diarrhea, malabsorption, abdominal pain, and inflammatory bowel diseases can indicate immune deficiency. (medscape.com)
  • Many of these disorders mimic classic forms of disease (in the absence of immunodeficiency) such as celiac sprue, inflammatory bowel disease (IBD), and pernicious anemia but differ in pathogenesis and are often unresponsive to conventional therapies. (medscape.com)
  • This review highlights the GI manifestations of the more common primary immunodeficiency disorders, focusing on the recognition of these diseases, appropriate diagnostic testing, and therapy. (medscape.com)
Gene9
  • In 2007, a 15-year-old boy with X-linked agammaglobulinemia (XLA) caused by a missense mutation (Thr35Pro) in the Bruton tyrosine kinase ( Btk ) gene was admitted to a psychiatric facility in Seattle, WA, USA, because of suicidal and homicidal ideation, headache, memory loss, and ataxia. (cdc.gov)
  • The disease was first elucidated by Bruton in 1952, for whom the gene is named. (medscape.com)
  • If these gene variants are passed down in the egg or sperm of one or both parents, they can cause disease in the child. (primaryimmune.org)
  • XLA is a rare disease that is inherited through a mutation in the Btk gene on the X-chromosome--one of the two types of sex chromosomes. (sciencedaily.com)
  • Agammaglobulinemia only needs a single bad copy of a gene to express itself. (mbbch.com)
  • Defects in the Bruton tyrosine kinase (BTK) gene cause X-linked agammaglobulinemia . (lu.se)
  • Variations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia. (lu.se)
  • So this is a disease where there aren't any antibodies in the blood, and X-linked means that it's caused by a gene mutation on the X chromosome. (osmosis.org)
  • A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
Genes3
  • 61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. (researchsquare.com)
  • The results suggest that using GS may be a suitable method for screening newborns for variants in a large number of disease associated genes. (researchsquare.com)
  • Different methods for identification of mutated genes, including Targeted Region Sequencing (TRS), ES and GS, is currently standard procedure in newborn children with a suspected disease. (researchsquare.com)
OMIM1
Symptoms3
  • Clinicians should be aware that symptoms of AFM can initially be subtle and often mimic other neurologic diseases with targeted treatments. (cdc.gov)
  • Kids without Agammaglobulinemia can also present these symptoms. (mbbch.com)
  • Immunodeficient and immunocompetent patients with gastrointestinal diseases present with similar symptoms. (medscape.com)
20171
  • IDF 2017 National Conference session, "X-Linked Agammaglobulinemia (XLA)" was presented by Dr. Howard Lederman, MD, PhD and Dr. M. Elizabeth Younger, CRNP, PhD on June 16, 2017. (primaryimmune.org)
Complications1
  • Even with this 'antibody replacement therapy' people with CVID frequently experience serious complications, including autoimmune disease. (edu.au)
Patients12
  • Patients meeting these criteria account for approximately 85% of cases of agammaglobulinemia. (medscape.com)
  • One study found bronchiectasis in 58% patients with agammaglobulinemia. (medscape.com)
  • Mutations in Brutons tyrosine kinase (Btk) within its PH domain cause X-linked agammaglobulinaemia (XLA) in patients. (embl.de)
  • As founding director of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at the University of California, Los Angeles (UCLA), Dr. Witte has fostered a collaborative and multidisciplinary regenerative medicine program at UCLA comprised of more than 200 clinicians, scientists, and engineers working to heal patients with cancer, genetic diseases, and other conditions. (aamc.org)
  • In fact, old reports we read stated that the vast majority of these patients have chronic lung disease by age 15. (sciencedaily.com)
  • Our study is reassuring and helps to put into perspective the ability of such patients to thrive with proper care, despite this potentially devastating disease. (sciencedaily.com)
  • Thirteen of the 41 patients reported that they had chronic lung disease, and 33 indicated that they had one or more episodes of sinusitis in the preceding year. (sciencedaily.com)
  • In a recent article, published in October 2015, in the peer-reviewed journal, "Immunology Report," researchers reviewed 27 patients at Ann & Robert H. Lurie Children's Hospital of Chicago from March 1985 to November 2013 to test for the types and rates of infections in patients with Chronic Granulomatous Disease (CGD). (primaryimmune.org)
  • Although patients with agammaglobulinemia are usually able to handle viral infections, they are susceptible to certain viruses that replicate in the GI tract and then spread to the CNS. (medscape.com)
  • As part of these studies, we had seen hundreds of patients with different forms of immunodeficiency disease. (nih.gov)
  • The gastrointestinal tract is the largest lymphoid organ in the body, so it is not surprising that intestinal diseases are common among immunodeficient patients. (medscape.com)
  • Treatment of immunodeficient patients with concomitant gastrointestinal disease can be challenging, and therapy with immunomodulators often is required for severe disease. (medscape.com)
Diagnosis and Treatment1
  • Diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease. (nih.gov)
Syndrome4
  • A Streptococcus-related disease including toxic shock syndrome. (cdc.gov)
  • This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. (cdc.gov)
  • It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation. (cdc.gov)
  • AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
Variants2
  • Some spelling variants might not lead to a significant change in the genetic instructions, and those variants do not cause disease. (primaryimmune.org)
  • Other spelling variants do significantly change the instructions, and those types of variants can cause diseases such as PI. (primaryimmune.org)
Bacterial infections1
  • Liver disease, autoimmune disease, chronic viral or bacterial infections and various malignancies may cause a polyclonal rise in the gamma fraction (see Table 2 below). (medscape.com)
Infections7
  • XLA was first characterized by Dr. Ogden Bruton in a ground-breaking research paper published in 1952 describing a boy unable to develop immunities to common childhood diseases and infections. (wikipedia.org)
  • X-linked agammaglobulinemia is characterized by low levels or absence of immunoglobulins and absence of B cells, leading to recurrent infections with encapsulated bacteria. (msdmanuals.com)
  • The study of 41 adults with X-linked agammaglobulinemia (XLA) showed that they can function as relatively healthy, productive individuals, even though they remain vulnerable to chronic, low-grade infections. (sciencedaily.com)
  • Other diseases that were common but not debilitating among this group were arthritis, diarrhea and skin infections. (sciencedaily.com)
  • Katamura et al (2002) described nonprogressive viral myelitis in a patient with XLA and suggested that the prognosis of CNS infections in agammaglobulinemia is not based on the Ig level alone and that they are not always progressive or fatal. (medscape.com)
  • CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
  • certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
Lymphopenia1
  • Screening for kappa receptor excision circles (KREC) (B cell lymphopenia in X-linked agammaglobulinemia (XLA)) followed in 2011 ( 6 ), and a combined assay is used in selected countries. (researchsquare.com)
Primary Immune Deficiency D1
  • The purpose of this study is to build a National Registry of individuals with one of the group of primary immune deficiency diseases. (mayo.edu)
Mutation2
  • Conley ME, Farmer DM, Dobbs AK, Howard V, Aiba Y, Shurtleff SA, Kurosaki T. A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease. (medlineplus.gov)
  • [ 1 ] A database of BTK mutations ( BTKbase: Mutation registry for X-linked agammaglobulinemia ) lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. (medscape.com)
Inheritance1
  • That is why it is called an X-linked disease or inheritance. (mbbch.com)
Therapeutic3
  • drugs which target the disease and their therapeutic use and side-effects . (guidetopharmacology.org)
  • The goal of this study is to perform whole exome sequencing (WES) to assess for monogenic defects that maybe be disease causing and may help in selection of appropriate therapeutic interventions including the possibility of hemopoietic stem cell transplant (HSCT). (mayo.edu)
  • Despite therapeutic advances, the disease-associated morbidity and mortality remain high. (bvsalud.org)
Synonyms1
Venereal diseases2
  • He had been healthy with the exception of an array of venereal diseases, including syphilis and gonorrhea on a number of occasions, but then he began having lassitude and weakness in February 1981. (nih.gov)
  • 027.8 Other 027.9 Unspecified OTHER BACTERIAL DISEASES (030-041) Excludes: bacterial venereal diseases (098. (cdc.gov)
Communicable diseases1
  • Protection of susceptible individuals from communicable diseases by administration of a living modified agent ( e.g., yellow fever vaccine), a suspension of killed organisms ( e.g., pertussis vaccine), or an inactivated toxin ( e.g., tetanus). (theodora.com)
Registry1
  • A 'Registry' is a list of basic information about people who have a certain disease or condition in common. (mayo.edu)
Infectious4
  • 2. Protection against infectious disease. (theodora.com)
  • Clinicians should immediately consult with their local neurologists and/or infectious disease specialists for treatment and medical management decisions for any suspected AFM patient. (cdc.gov)
  • Clinicians should expedite neurology and infectious disease consultations to discuss treatment and management considerations. (cdc.gov)
  • Sentinel mouse seroconversion to infectious providers is critical for laboratory pet service disease monitoring. (woofahs.com)
Chronic Disease1
  • Dr. Witte's first major discovery helped transform chronic myelogenous leukemia (CML) from a fatal diagnosis to a chronic disease. (aamc.org)
Immunoglobulins1
  • Diagnosis of X-linked agammaglobulinemia is by detecting low (at least 2 standard deviations below the mean) levels of immunoglobulins (IgG, IgA, IgM) and absent B cells ( 1% of all lymphocytes are CD19 + cells, detected by flow cytometry). (msdmanuals.com)
Centers5
  • Centers for Disease Control and Prevention. (cdc.gov)
  • Disclaimer: The use of the drug names is for informational purposes only, and does not imply endorsement or criticism of the product or manufacturer by the U.S. Government, the Department of Health and Human Services, or the Centers for Disease Control and Prevention. (cdc.gov)
  • Ensure awareness of and access to the standard 3-step HIV testing algorithm recommended by the Centers for Disease Control and Prevention (CDC) and the NYSDOH AI. (hivguidelines.org)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • The MMWR series of publications is published by the Epidemiology Program Office, Centers for Disease Control and Prevention (CDC), Public Health Service, U.S. Depart- ment of Health and Human Services, Atlanta, GA 30333. (cdc.gov)
Adolescent1
Liver1
  • This test is often done to diagnose nutritional problems, kidney disease or liver disease . (ucsfhealth.org)
Absent1
  • The spleen, the tonsils, the adenoids, the Peyer patches in the intestines, and the peripheral lymph nodes may all be reduced in size or absent in individuals with X-linked agammaglobulinemia (XLA). (medscape.com)
Genetic disorder1
  • Wilson's disease is a rare genetic disorder that prevents a patient's body from getting rid of excess copper. (naturalpedia.com)
Thrombocytopenia2
  • One such disease in children is immune thrombocytopenia (also called immune thrombocytopenic purpura or ITP), which is the most common acquired bleeding illness in children [3]. (who.int)
  • The incidence of the disease in high-income mune thrombocytopenia (also called im- countries is about 3-10 per 100 000 chil- mune thrombocytopenic purpura or ITP), dren per year below 16 years of age [ 8,9 ]. (who.int)
Lymphoid1
  • The first is composed of diseases caused by defects intrinsic to lymphoid cells. (mhmedical.com)
Clinical2
  • General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. (guidetopharmacology.org)
  • Note: Kawasaki Disease (KD) may be an acceptable alternative diagnosis to MIS-C. If documented by the clinical treatment team, a final diagnosis of Kawasaki Disease should be considered an alternative diagnosis. (cdc.gov)