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Autosomal Agammaglobulinemia

Agammaglobulinemia Type Non-Bruton


Presentation

  • In order to achieve this goal, about 90 cases drawn from real life are presented, along with approximately 300 related questions.[books.google.com]
  • Most common presentation of the disease is otitis media and infections of the upper respiratory airways (sinusitis and pneumonia). Conjunctivitis, chronic recurrent diarrhea, and skin infections are also common.[clinicaladvisor.com]
  • 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.[nature.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Workup

  • The workup should start with a complete blood count (CBC) and differential. In the case of autosomal agammaglobulinemia, the number neutophils is within normal limits, The workup should start with a complete blood count (CBC) and differential.[clinicaladvisor.com]
  • The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol 2001;87(5):362-370. 4. Paul ME, Shearer WT. Chapter 33- Approach to the Evaluation of the Immunodeficient Patient. In: Rich RR, Fleisher TA (eds).[hawaii.edu]

Treatment

  • Management and treatment There is no curative treatment but good disease control can be achieved through consistent gammaglobulin therapy. This can be given intravenously (400-600 mg/kg every 3 to 4 weeks) or subcutaneously (100 mg/kg every week).[orpha.net]
  • 85 Pathology and Treatment of Liver Diseases 641 86 Neonatal CholestasisConjugated Hyperbilirubinemia 650 87 Surgical Treatment of Biliary Tract Malformations 659 88 Orofacial Malformations 664 89 Esophageal Atresia 675 90 Gastrointestinal Malformations[books.google.de]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services.[rarediseases.info.nih.gov]
  • Treatment of X-Linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia At this time, there is no way to cure patients who have agammaglobulinemia.[primaryimmune.org]

Prognosis

  • Prognosis The prognosis depends on the age at diagnosis, compliance with therapy and the development of complications. Most patients on treatment can lead a normal life.[orpha.net]
  • , Prevention, and Complications Prognosis normal prognosis with regular IVIG therapy and early detection Prevention screening in newborns regular IVIG to prevent infections Complications small risk of malignancy Please rate topic.[medbullets.com]
  • […] such as a bronchitis, diarrhea, eye infections, ear infections, and sinus infections The treatment options for Agammaglobulinemia may include antibody replacement through gamma globulin therapy and treating infections with appropriate antibiotics The prognosis[dovemed.com]
  • However, because the prognosis is poor, hematopoietic stem cell transplantation is preferred if an HLA-identical sibling donor is available.[merckmanuals.com]
  • Prognosis The prognosis is very good for patients whose condition is diagnosed and treated early.[what-when-how.com]

Etiology

  • Discusses new studies examining potential etiologies for the increase in food allergy and examines potential immunotherapeutic strategies for treating food allergies.[books.google.com]
  • Etiology The disorder is due to mutations in various genes involved in humoral immunity, including: IGHM (14q32.33), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3) Common causative microorganisms[orpha.net]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]

Epidemiology

  • Summary Epidemiology Fewer than 100 cases of autosomal inherited agammaglobulinemia have been reported to date.[orpha.net]
  • Syndrome 1160 137 Neuroprotective Strategies 1173 138 Cerebral Hemorrhage 1180 139 Neonatal Arterial Stroke 1192 140 Neonatal Seizures 1199 141 The Timing of Neonatal Brain Damage 1208 142 Thrombosis in the Development of Newborn Brain Damage 1216 143 Epidemiology[books.google.de]
  • […] cytometry – if protein expression is absent or reduced, suggests X-linked agammaglobulinemia (XLA) in males Differential Diagnosis X-linked hyper IgM syndrome X-linked severe combined immunodeficienc y X-linked lymphoproliferative disease HIV Background Epidemiology[arupconsult.com]
  • Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. J Allergy Clin Immunol Pract. 2016; 4(6):1059-1065. PMID: 26883540 Berglöf, A, et al.[invitae.com]
  • Epidemiology Definition : permanent dilation of bronchi and bronchioles with associated airway wall damage Prevalence : bronchiectasis is found in patients of all ages, genders, and ethnic groups However, older adults are mre commonly affected than youngr[mdnxs.com]
Sex distribution
Age distribution

Pathophysiology

  • 699 92 Meconium Plug Syndrome 704 93 Hirschsprungs Disease 708 94 Gastroenteritis and Intractable Diarrhea 713 95 Rehydration after Diarrhea 719 96 Necrotizing Enterocolitis 724 97 Surgical Treatment of Necrotizing Enterocolitis 731 Overview 735 99 Pathophysiology[books.google.de]
  • […] immunodeficienc y X-linked lymphoproliferative disease HIV Background Epidemiology Incidence – estimated 1/250,000-700,000 male births Age 50% diagnosed by 2 years 80% diagnosed by 5 years Sex – 99% male Ethnicity – most commonly diagnosed in Caucasians Pathophysiology[arupconsult.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency affecting males in approximately 1 in 200,000 live births[mayomedicallaboratories.com]
  • In addition to the genetic defects described above, other pathophysiology mechanisms may result in hypogammaglobulinemia or agammaglobulinemia, such as viral infections, malignancy, or drug effects. These are described in more detail in Causes.[emedicine.medscape.com]

Prevention

  • Immunoglobulin is particularly effective in preventing the spread of infections into the bloodstream and to deep body tissues or organs.[primaryimmune.org]
  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • These results suggest that patients with non-X-linked forms of HIM may have an intrinsic B cell defect preventing heavy chain switching, which is not related to expression of CD40L.[jimmunol.org]
  • These mutations prevent the development and regulation of B lymphocytes Pre-B-lymphocytes are unable to mature into B lymphocytes.[dovemed.com]
  • , and Complications Prognosis normal prognosis with regular IVIG therapy and early detection Prevention screening in newborns regular IVIG to prevent infections Complications small risk of malignancy Please rate topic.[medbullets.com]

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