PASLI disease
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 397596
Definition
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
New York, NY, 10017, United States Fax : 212-764-4180 Email: info@jmfworld.org Url: http://www.info4pi.org/ JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures - through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening. Name: International Patient Organization for Primary Immunodeficiencies IPOPI Rock Bottom, Trerieve Downderry
PL11 3LY
United Kingdom Phone: 44-01503-250-668/961 Email: Info@ipopi.org Url: https://ipopi.org Name: Immune Deficiency Foundation 110 West Road, Suite 300
Towson, MD, 21204, United States Toll Free: 1-800-296-4433 Fax : +1-410-321-9165 Email: https://www.primaryimmune.org/services/ask-idf/ Url: https://www.primaryimmune.org/ Name: United States Immunodeficiency Network (USIDNET) 110 West Road, Suite 300
Towson, MD, 21204-4803, United States Phone: 443-632-2558 Toll Free: 800-296-4433 (se habla español) Email: contact@usidnet.org Url: https://www.usidnet.org Name: Canadian Immunodeficiencies Patient Organization (CIPO) 25 La Grave St Winnepeg, MB
R3V 1J1, Canada Phone: 877-262-2476 (toll-free) Fax : 866-942-7651 (toll-free) Email: http://www.cipo.ca/#contact Url: http://cipo.ca Name: Immune Deficiencies Foundation Australia PO Box 969 Penrith NSW 2751
Australia Phone: 800-100-198 Email: info@idfa.org.au Url: http://www.idfa.org.au/
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