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Severe combined immunodeficiency due to CD70 deficiency(LPFS3)

MedGen UID:
1799982
Concept ID:
C5568559
Disease or Syndrome
Synonyms: CD70 DEFICIENCY; LYMPHOPROLIFERATIVE SYNDROME 3
SNOMED CT: Combined immunodeficiency due to CD70 deficiency (1186715006)
 
Gene (location): CD70 (19p13.3)
 
Monarch Initiative: MONDO:0034054
OMIM®: 618261
Orphanet: ORPHA538958

Definition

Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have hypogammaglobulinemia without lymphopenia, although some subsets of immune cells may be low and some patients may have recurrent infections. The disorder results from impaired signaling from proliferating B cells to effector T cells that provide immune surveillance. There may be an increased risk of solid tumors in heterozygous carriers (summary by Abolhassani et al., 2017). 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).
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).
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
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.
Reduced natural killer cell count
MedGen UID:
383765
Concept ID:
C1855767
Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Decreased circulating antibody concentration
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
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.
Partial absence of specific antibody response to tetanus vaccine
MedGen UID:
1699537
Concept ID:
C5139460
Finding
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere combined immunodeficiency due to CD70 deficiency

Professional guidelines

PubMed

Chinen J, Cowan MJ
J Allergy Clin Immunol 2018 Oct;142(4):1041-1051. Epub 2018 Aug 29 doi: 10.1016/j.jaci.2018.08.016. PMID: 30170128Free PMC Article

Recent clinical studies

Diagnosis

Fayyaz H, Zaman A, Haider N, Waris R, Hussain M, Raza SI, Ahmad W, Ullah I
Immunogenetics 2024 Dec;76(5-6):351-360. Epub 2024 Sep 17 doi: 10.1007/s00251-024-01353-9. PMID: 39287664
Chinen J, Cowan MJ
J Allergy Clin Immunol 2018 Oct;142(4):1041-1051. Epub 2018 Aug 29 doi: 10.1016/j.jaci.2018.08.016. PMID: 30170128Free PMC Article

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