Autoimmune lymphoproliferative syndrome type 1A (ALPS 1A) generally presents in early childhood, and is characterized by chronic, non-malignant lymphadenopathy, usually with autoimmunity. [genedx.com]

Acronym LPFS1 Synonyms Lymphoproliferative syndrome, EBV-associated, autosomal, 1 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The medical information contained in the present web site is only addressed to specialized medical staff and cannot substitute any medical action. For personal cases we invite to consult one's GP. [medicoebambino.com]

Presentation [ 4 ] Onset and time course Most patients present with lymphoproliferation (see below) in early childhood (median age approximately 1 year). [patient.info]

We present a case report of a patient with multiple lymphadenopathy and splenomegaly which on workup was diagnosed as autoimmune lymphoproliferative disorder (ALPS). :: Case Report A 50-year-old male presented with a 15-day history of fever, fatigue, [jpgmonline.com]

• Splenomegaly

  It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child. [pediatrics.aappublications.org]

  Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. [uniprot.org]

  Abdomen Fulminant hepatitis Liver failure Gastrointestinal Hepatomegaly Splenomegaly General Reduced life expectancy, death by 10 years of age in 70% of patients Hematologic Anemia Atypical lymphocytosis Pancytopenia Thrombocytopenia Immunologic System [datagenno.com]

  CHU Hedi Chaker, Sfax 2 Institut Pasteur, Tunis, Tunisia Abstract Background The Autoimmune Lymphoproliferative Syndrome (ALPS) is an impairment of lymphocyte apoptosis expressed by generalized non-malignant lymphoproliferation, lymphadenopathy and/or splenomegaly [adc.bmj.com]

  Synopsis pharyngitis EBV-associated lymphoid granulomatosis hepatomegaly fulminant hepatitis liver failure and hepatic encephalopathy splenomegaly meningitis encephalitis anemia thrombocytopenia pancytopenia atypical lymphocytosis - lymphadenopathy fulminant [humpath.com]

• Recurrent Infection

  Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. [uniprot.org]

  […] aphthous stomatitis ; Recurrent infections ; Splenomegaly ; Stomatitis ; Thrombocytopenia Associated Genes ITK (Withdrawn symbols: EMT, LYK, PSCTK2 ) Mouse Orthologs Itk (Withdrawn symbols: Tcsk ) Source OMIM:613011 (names, synonyms, disease associated [mousephenotype.org]

  Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections [diseaseinfosearch.org]

  infections Cirrhosis Lymphopenia Recurrent upper respiratory tract infections Vasculitis Ascites Recurrent respiratory infections Ptosis Combined immunodeficiency Erythema Abnormality of the skeletal system Leukemia Aplastic anemia Tics Adenoma sebaceum [mendelian.co]

  […] pyogenic infections, especially of the skin and soft tissue Staphylococcus spp. [medbullets.com]

• Rigor

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• Joint Deformity

  This gene CASP10 gene this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma Distal arthrogryposis type 1 Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that 1 [ghr.nlm.nih.gov]

• Excitement

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In the light of the above presentation a complete workup was initiated to exclude common conditions like tuberculosis, acquired immunodeficiency syndrome, lymphoid malignancy and sarcoidosis. [jpgmonline.com]

A careful history and workup were needed to exclude other possible etiologies for the patient's symptoms and physical findings. ALPS often carries significant morbidity and is best managed through a multidisciplinary approach. [ingentaconnect.com]

• Hyperglobulinemia

  […] virus [HIV] disease ( B20 ) Certain disorders involving the immune mechanism D89 ICD-10-CM Diagnosis Code D89 Other disorders involving the immune mechanism, not elsewhere classified 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes hyperglobulinemia [icd10data.com]

Other treatment is symptomatic and supportive. [rarediseases.info.nih.gov]

Treatment Treatment is most commonly directed at autoimmune disease and may be needed to treat bulky lymphoproliferation. [ipfs.io]

In such cases, other treatments might be needed. Other treatments for PTLD If your PTLD does not resolve with reduced immunosuppression, or your lymphoma is aggressive, you need other treatments. [lymphomas.org.uk]

Landscape * Overview of Diffuse Large B-Cell Lymphoma* Staging & Grading* Treatment Choices for Resistant Disease* Emerging Treatment Approaches* The Role of Clinical Trials* How Research Contributes to Your Treatment Options* Tips to Manage Side Effects [player.fm]

For patients with cervical or vulvar cancer this treatment should be considered a rather palliative one and must be weighted carefully against other treatment options like chemotherapy, targeted therapies or new highly conformal radiotherapy techniques [epub.ub.uni-muenchen.de]

and cell type: the low-grade lymphoid proliferation of polyclonal B-cell origin with EBV implication have a better prognosis than other cell types of higher grade. [radiopaedia.org]

Prevention, and Complications Prognosis fatal in childhood, usually before age 10 mortality due to lymphoproliferative syndrome if the affected individual lives to adulthood, progressive neurologic dysfunction is a dominant feature Complications 50- [medbullets.com]

Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. [diseaseinfosearch.org]

Prognosis for those patients has dramatically improved over the decades due to improved lymphoma chemotherapy protocols. [6] Jin YY, Zhou W, Tian ZQ, Chen TX. [emedicine.medscape.com]

The prognosis for patients with post-transplant lymphoproliferative disorder varies according to the age of the patient and the extent of disease. [ajnr.org]

Somatic Fas mutations are the second most common genetic etiology of ALPS. Case report We describe a two year old boy who was admitted with hepatosplenomegaly, generalized lymphadenopathy and anemia. [adc.bmj.com]

EBV-associated ’fatal infectious mononucleosis’ Biology combined variable immunodeficiency involving B and T cells normal number of B cells Normal number of T cells Reduced CD4+/CD8+ ratio with CD8+ predominance Reduced natural killer cell activity Etiology [humpath.com]

A careful history and workup were needed to exclude other possible etiologies for the patient's symptoms and physical findings. ALPS often carries significant morbidity and is best managed through a multidisciplinary approach. [ingentaconnect.com]

The etiology of the lymphadenopathy in most patients with ALPS is related to an impairment of apoptosis due to inherited heterozygous mutations in the fas gene (tumor necrosis factor receptor gene superfamily member 6-TNFRSF6, CD95, APO-1, APT-1), which [jpgmonline.com]

Therefore the defect in XLP converts normally activating signals into inhibitory signals. [7, 8, 9, 10] An XLP syndrome caused by mutations in the inhibitor-of-apoptosis gene XIAP has also been reported. [11, 12] Etiology Mutations in the SH2D1A and XIAP [emedicine.medscape.com]

SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. [13] Epidemiology X-linked lymphoproliferative (XLP) syndrome is rare. XLP1 is estimated to occur in about 1 in 1,000,000 males worldwide. [emedicine.medscape.com]

OUTLINE EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Canale-Smith syndrome Lymphoproliferative syndrome with autoimmunity EPIDEMIOLOGIC ASSOCIATIONS Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. [thedoctorsdoctor.com]

To facilitate interinstitutional comparisons of the epidemiology, prevention, and treatment of PTLD, it is essential that a standardized approach to the pathologic diagnosis of PTLD be used. [academic.oup.com]

This finding supports the idea that the pathophysiology of ALPS is multifactorial, with an autosomal dominant inheritance pattern and variable penetrance. [12] [emedicine.medscape.com]

[…] appears to depend on X-inactivation patterns (summary by {8:Yang et al., 2012}; review by {2:Latour and Aguilar, 2015}). {2:Latour and Aguilar (2015)} provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology [diseaseinfosearch.org]

[…] is secure References Citations Supplementary Data Abstract References Citations Supplementary Data Article Media Metrics A case of autoimmune lymphoproliferative syndrome (ALPS) was presented, followed by a discussion of the clinical characteristics, pathophysiology [ingentaconnect.com]

Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they [mayomedicallaboratories.com]

[…] life-threatening infectious mononucleosis and the onset of other symptoms and findings potentially associated with XLP. [1] If a person with XLP is diagnosed after EBV exposure, treatment may include therapies to help prevent opportunistic infections [rarediseases.info.nih.gov]

[…] and early detection of cervical cancer: American Cancer Society, American Society for Colposcopy and Cervical Pathology, and American Society for Clinical Pathology screening guidelines for the prevention and early detection of cervical cancer. [nccn.org]

Prevention of Ptld In the absence of reliably effective therapy for all stages of PTLD, the optimal strategy for the management of PTLD in solid-organ transplant recipients is currently focused on prevention. [academic.oup.com]

Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. [ghr.nlm.nih.gov]

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