Dianzani autoimmune lymphoproliferative disease(DALD)

MedGen UID:: 418980
•Concept ID:: C2931071
•: Disease or Syndrome

Synonyms:	Autoimmune lymphoproliferative syndrome without FAS mutations; DALD; Dianzani autoimmune lymphoproliferative syndrome; Dianzani form of autoimmune lymphoproliferative disease
SNOMED CT:	Dianzani autoimmune lymphoproliferative disease (721093000); DALD - Dianzani autoimmune lymphoproliferative disease (721093000)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0011524
OMIM®:	605233
Orphanet:	ORPHA275523

Definition

A very rare disorder with characteristics of autoimmunity, lymphadenopathy and/or splenomegaly. The prevalence is not known. The disorder has been reported in fewer than 30 patients to date. Age of onset is highly variable, ranging from childhood to young adulthood. A possible increased risk of cancer has been suggested in these patients. The cause is not known but it is thought to be hereditary. Biologically, DALD has characteristics of normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis. The pattern of inheritance of DALD is not known. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDianzani autoimmune lymphoproliferative disease

Pathological process
- Disease
  - Disorder by Site
    - Hematopoietic and Lymphoid System Disorder
      - Hematologic disorder
        Lymphoproliferative disorder
        Dianzani autoimmune lymphoproliferative disease

Follow this link to review classifications for Dianzani autoimmune lymphoproliferative disease in Orphanet.

Recent clinical studies

Etiology

Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.

Aricò M, Boggio E, Cetica V, Melensi M, Orilieri E, Clemente N, Cappellano G, Buttini S, Soluri MF, Comi C, Dufour C, Pende D, Dianzani I, Ellis SR, Pagliano S, Marcenaro S, Ramenghi U, Chiocchetti A, Dianzani U
PLoS One 2013;8(7):e68045. Epub 2013 Jul 1 doi: 10.1371/journal.pone.0068045. PMID: 23840885 Free PMC Article

The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.

Boggio E, Melensi M, Bocca S, Chiocchetti A, Comi C, Clemente N, Orilieri E, Soluri MF, D'Alfonso S, Mechelli R, Gentile G, Poggi A, Salvetti M, Ramenghi U, Dianzani U
Hum Immunol 2012 May;73(5):585-92. Epub 2012 Mar 7 doi: 10.1016/j.humimm.2012.02.025. PMID: 22425739

The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.

Campagnoli MF, Garbarini L, Quarello P, Garelli E, Carando A, Baravalle V, Doria A, Biava A, Chiocchetti A, Rosolen A, Dufour C, Dianzani U, Ramenghi U
Haematologica 2006 Apr;91(4):538-41. Epub 2006 Mar 15 PMID: 16537120

High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation.

Chiocchetti A, Indelicato M, Bensi T, Mesturini R, Giordano M, Sametti S, Castelli L, Bottarel F, Mazzarino MC, Garbarini L, Giacopelli F, Valesini G, Santoro C, Dianzani I, Ramenghi U, Dianzani U
Blood 2004 Feb 15;103(4):1376-82. Epub 2003 Oct 30 doi: 10.1182/blood-2003-05-1748. PMID: 14592838

See all (4)

Diagnosis

Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.

Berio A, Mangiante G, Piazzi A
Pediatr Med Chir 2014 Dec 30;36(5-6):100. doi: 10.4081/pmc.2014.100. PMID: 25669891

IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes.

Boggio E, Clemente N, Mondino A, Cappellano G, Orilieri E, Gigliotti CL, Toth E, Ramenghi U, Dianzani U, Chiocchetti A
Blood 2014 Feb 20;123(8):1178-86. Epub 2013 Dec 20 doi: 10.1182/blood-2013-07-518167. PMID: 24363402

See all (2)