Autoimmune lymphoproliferative syndrome

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

Splenomegaly

Abnormal increased size of the spleen.


Total: 16

                       


(per page)
PMID (PMCID)
24906264
 MIXED_SAMPLE Infant, Newborn
Autoimmune lymphoproliferative syndrome with neonatal onset.
Naveed M, Khamis Butt UB, Mannan J.
J Coll Physicians Surg Pak. 2014;24 Suppl 2:S124-6.
We describe 2 cases of autoimmune lymphoproliferative syndrome (ALPS), which is a rare disorder of auto-immunity, chronic persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly and hyper gamma globulinemia (1gG, 1gA).
21382177
 FEMALE Child
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N.
Int J Immunogenet. 2011;38(4):287-93.
CASP10 is known as a causative gene for autoimmune lymphoproliferative syndrome (ALPS) type IIa, another childhood syndrome of lymphadenopathy and splenomegaly associated with autoimmune haemolytic anaemia and thrombocytopenia.
21079152
 FEMALE Child
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.
Niemela JE, Lu L, Fleisher TA, Davis J, Caminha I, Natter M, Beer LA, Dowdell KC, Pittaluga S, Raffeld M, Rao VK, Oliveira JB.
Blood. 2011;117(10):2883-6.
We recently described a syndrome of chronic nonmalignant lymphadenopathy, splenomegaly, and autoimmunity associated with a mutation in NRAS affecting hematopoietic cells, and initially we classified the disease as a variant of the autoimmune lymphoproliferative syndrome.
22525637
 MALE Child
[Autoimmune lymphoproliferative syndrome].
Rodrigues V, Conde M, Figueiredo A, Vasconcelos J, Dias A.
Acta Med Port. 2011;24(5):833-6.
The Autoimmune Lymphoproliferative Syndrome (ALPS) is an impairment of lymphocyte apoptosis expressed by generalized non-malignant lymphoproliferation, lymphadenopathy and/or splenomegaly.
20227933
 MALE
[Familial splenomegaly as a first clinical sign of autoimmune lymphoproliferative syndrome].
Bilbao Aburto A, Arana Aguirre N, Garcia Martinez JM, Astigarraga Aguirre I, Allende LM.
An Pediatr (Barc). 2010;72(4):278-81.
Chronic familial splenomegaly can be the only clinical sign of autoimmune lymphoproliferative syndrome.
19588524
 FEMALE Infant
Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome.
Janic MD, Brasanac CD, Jankovic JS, Dokmanovic BL, Krstovski RN, Kraguljac Kurtovic JN.
Pediatr Blood Cancer. 2009;53(6):1117-9.
Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of the immune system caused by inadequate induction of apoptosis via the Fas pathway, mainly characterized by generalized lymphadenopathy, splenomegaly, and autoimmune cytopenias, as well as increased risk of lymphoma.
19499578
 MIXED_SAMPLE Infant
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly.
Glerup M, Thelle T, Gronbaek K, Hasle H.
Pediatr Blood Cancer. 2009;53(6):1124-6.
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly.
18310796
 MALE Child
Autoimmune lymphoproliferative syndrome (ALPS): a rare cause of immune cytopenia.
John MJ, Rajasekhar R, Mathews V.
Indian Pediatr. 2008;45(2):148-50.
Autoimmune Lymphoproliferative syndrome (ALPS) is an inherited disorder manifesting with autoimmune cytopenia, lymphadenopathy and splenomegaly.
17638424
 MALE Infant, Newborn
Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset.
Kahwash SB, Fung B, Savelli S, Bleesing JJ, Qualman SJ.
Pediatr Dev Pathol. 2007;10(4):315-9.
We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy.
17999750
(2211507)
 MIXED_SAMPLE Child
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U.
BMC Immunol. 2007;8:28.
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder characterized by defective function of Fas, autoimmune manifestations that predominantly involve blood cells, polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphoadenomegaly and/or splenomegaly, and expansion of TCRalphabeta+ CD4/CD8 double-negative (DN) T cells in the peripheral blood.
17301439
 OTHER
Autoimmune lymphoproliferative syndrome; a case report.
Alavi S, Taghi Arzanian M, Chavoshzadeh Z, Esteghamati M.
Iran J Allergy Asthma Immunol. 2005;4(3):149-52.
Autoimmune lymphoproliferative syndrome should be considered in differential diagnosis of any patient with unexplained Coomb's positive cytopenias, hypergammaglobulinemia, generalized lymphadenopathy and splenomegaly.
15236285
 MIXED_SAMPLE Infant
Autoimmune lymphoproliferative syndrome: a cause of chronic splenomegaly, lymphadenopathy, and cytopenias in children-report on diagnosis and management of five patients.
Alvarado CS, Straus SE, Li S, Dale JK, Mann K, Le A, Lauer SJ.
Pediatr Blood Cancer. 2004;43(2):164-9.
Autoimmune lymphoproliferative syndrome: a cause of chronic splenomegaly, lymphadenopathy, and cytopenias in children-report on diagnosis and management of five patients.
11233777
 MALE
Interferon-alpha activity in a case of severe autoimmune lymphoproliferative disease.
Ceretelli S, Petrini M, Galimberti S, Testi C, Frizzera G.
Ann Hematol. 2001;80(1):49-52.
Clinical and laboratory features of this disease include a generalized lymphadenopathy, splenomegaly, increased levels of circulating CD3+ with low levels of CD4+, CD8+ T-cells, and autoimmune phenomena, characteristics that the autoimmune lymphoproliferative syndrome (ALPS) have in common.
10340403
 MIXED_SAMPLE
Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.
Peters AM, Kohfink B, Martin H, Griesinger F, Wormann B, Gahr M, Roesler J.
Exp Hematol. 1999;27(5):868-74.
A functional defect in apoptosis was detected in cells from the index patient, a 5-year-old girl suffering from Canale-Smith syndrome and a T-cell lymphoma, as well as in her father, who had a history of splenomegaly and mild hemolysis, and her paternal uncle who had been cured of Hodgkin's disease (HD).
10575548
 MALE Child
Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.
Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, Patel KD, Jorgenson K, Woodman RC.
Blood Cells Mol Dis. 1999;25(3-4):227-38.
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, newly recognized, chronic lymphoproliferative disorder in children and is characterized by lymphadenopathy, splenomegaly, pancytopenia, autoimmune phenomena and expansion of double-negative (DN) T lymphocytes (TCR alpha beta+, CD4-, CD8-).
10200534
 MIXED_SAMPLE
Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation.
Haas JP, Grunke M, Frank C, Kolowos W, Dirnecker D, Leipold G, Hieronymus T, Lorenz HM, Herrmann M.
Cell Death Differ. 1998;5(9):751-7.
We describe a 17 year old patient suffering from Canale-Smith syndrome (CSS) including chronic lymphadenopathy, splenomegaly, hypergammaglobulinemia and recurrent Coombs positive hemolytic crises.