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Lymphoproliferative syndrome 2(LPFS2)

MedGen UID:
767454
Concept ID:
C3554540
Disease or Syndrome
Synonyms: CD27 DEFICIENCY; LPFS2
 
Gene (location): CD27 (12p13.31)
 
Monarch Initiative: MONDO:0014054
OMIM®: 615122

Definition

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). [from OMIM]

Clinical features

From HPO
Classic Hodgkin lymphoma
MedGen UID:
9283
Concept ID:
C0019829
Neoplastic Process
Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Lymphoproliferative disorder
MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Aplastic anemia
MedGen UID:
8063
Concept ID:
C0002874
Disease or Syndrome
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargement (swelling) of a lymph node.
Hemophagocytosis
MedGen UID:
163750
Concept ID:
C0876991
Disease or Syndrome
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Persistent EBV viremia
MedGen UID:
767466
Concept ID:
C3554552
Finding
Persistent presence of Epstein-Barr virus in the blood.
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Decreased lymphocyte proliferation in response to mitogen
MedGen UID:
1615224
Concept ID:
C4531166
Cell or Molecular Dysfunction
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Severe varicella zoster infection
MedGen UID:
1688785
Concept ID:
C5139168
Disease or Syndrome
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
EBV meningitis
MedGen UID:
1788598
Concept ID:
C5539655
Disease or Syndrome
Inflammation of the meninges related to infection by Epstein-Barr virus.
EBV encephalitis
MedGen UID:
1778372
Concept ID:
C5539656
Disease or Syndrome
Inflammation of the brain related to infection by Epstein-Barr virus.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Professional guidelines

PubMed

Nie G, Sun L, Zhang C, Yuan Y, Mao H, Wang Z, Li J, Duan S, Xing C, Zhang B
Front Immunol 2022;13:903315. Epub 2022 Sep 12 doi: 10.3389/fimmu.2022.903315. PMID: 36172352Free PMC Article
Yang L, Booth C, Speckmann C, Seidel MG, Worth AJJ, Kindle G, Lankester AC, Grimbacher B; ESID Clinical and Registry Working Parties, Gennery AR, Seppanen MRJ, Morris EC, Burns SO
J Allergy Clin Immunol 2022 Aug;150(2):456-466. Epub 2021 Dec 15 doi: 10.1016/j.jaci.2021.10.037. PMID: 34920033
Lee AS, Scofield RH, Hammitt KM, Gupta N, Thomas DE, Moua T, Ussavarungsi K, St Clair EW, Meehan R, Dunleavy K, Makara M, Carsons SE, Carteron NL; Consensus Expert Panel (CEP) Members
Chest 2021 Feb;159(2):683-698. Epub 2020 Oct 16 doi: 10.1016/j.chest.2020.10.011. PMID: 33075377Free PMC Article

Recent clinical studies

Etiology

Díaz de Heredia C, Ortega JJ, Díaz MA, Olivé T, Badell I, González-Vicent M, Sánchez de Toledo J
Bone Marrow Transplant 2008 Apr;41(7):627-33. Epub 2007 Dec 17 doi: 10.1038/sj.bmt.1705946. PMID: 18084339

Clinical prediction guides

Wahida A, Müller M, Hiergeist A, Popper B, Steiger K, Branca C, Tschurtschenthaler M, Engleitner T, Donakonda S, De Coninck J, Öllinger R, Pfautsch MK, Müller N, Silva M, Usluer S, Thiele Orberg E, Böttcher JP, Pfarr N, Anton M, Slotta-Huspenina JB, Nerlich AG, Madl T, Basic M, Bleich A, Berx G, Ruland J, Knolle PA, Rad R, Adolph TE, Vandenabeele P, Kanegane H, Gessner A, Jost PJ, Yabal M
Sci Immunol 2021 Nov 5;6(65):eabf7235. doi: 10.1126/sciimmunol.abf7235. PMID: 34739338
Rigaud S, Lopez-Granados E, Sibéril S, Gloire G, Lambert N, Lenoir C, Synaeve C, Stacey M, Fugger L, Stephan JL, Fischer A, Picard C, Durandy A, Chapel H, Latour S
Blood 2011 Jul 14;118(2):252-61. Epub 2011 May 4 doi: 10.1182/blood-2011-01-328849. PMID: 21543760

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