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Immunodeficiency 109 with lymphoproliferation(IMD109)

MedGen UID:
1840982
Concept ID:
C5830346
Disease or Syndrome
Synonym: IMD109
 
Gene (location): TNFRSF9 (1p36.23)
 
Monarch Initiative: MONDO:0859526
OMIM®: 620282

Definition

Immunodeficiency-109 with EBV-induced lymphoproliferation (IMD109) is an autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Affected individuals are susceptible to infection with EBV and develop EBV viremia and EBV-associated lymphoproliferative disease or B-cell lymphoma. Immunologic workup shows normal levels of T, B, and NK cells, with defective CD8+ T cell function after stimulation. Some patients may have hypogammaglobulinemia and poor antibody response to stimulation (Alosaimi et al., 2019). [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).
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).
Hypofibrinogenemia
MedGen UID:
107511
Concept ID:
C0553681
Disease or Syndrome
Decreased concentration of fibrinogen in the blood.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Generalized lymphadenopathy
MedGen UID:
96909
Concept ID:
C0476486
Finding
A generalized form of lymphadenopathy.
Persistent EBV viremia
MedGen UID:
767466
Concept ID:
C3554552
Finding
Persistent presence of Epstein-Barr virus in the blood.
Absent circulating B cells
MedGen UID:
868166
Concept ID:
C4022558
Finding
Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
Decreased specific pneumococcal antibody level
MedGen UID:
868496
Concept ID:
C4022890
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
Decreased lymphocyte proliferation in response to anti-CD3
MedGen UID:
1614554
Concept ID:
C4531165
Finding
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
Complete or near-complete absence of specific antibody response to tetanus vaccine
MedGen UID:
1687415
Concept ID:
C5139458
Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Decreased circulating IgG concentration
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.

Recent clinical studies

Etiology

Patrakeeva VP, Dobrodeeva LK
Immun Inflamm Dis 2020 Sep;8(3):320-324. Epub 2020 May 16 doi: 10.1002/iid3.308. PMID: 32415758Free PMC Article

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