Burkitt lymphoma- MedGen UID:
- 2377
- •Concept ID:
- C0006413
- •
- Neoplastic Process
Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear.
Epidermodysplasia verruciformis, susceptibility to, 4- MedGen UID:
- 1648396
- •Concept ID:
- C4749042
- •
- Finding
Immunodeficiency-129 (IMD129) is an autosomal recessive immunologic disorder characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life. Some affected individuals have increased susceptibility to certain human papillomaviruses (HPV), resulting in warts and skin lesions that do not respond to treatment, as well as opportunistic infections. Immunologic studies usually show decreased CD4+ T cells, increased effector memory T cells, and decreased naive T cells, suggesting a defect in T-cell development. Some individuals may also have decreased NK cells and B cells, as well as hypogammaglobulinemia. The phenotype is variable (Crequer et al., 2012; Zhou et al., 2024).
X-linked lymphoproliferative disease due to SH2D1A deficiency- MedGen UID:
- 1770239
- •Concept ID:
- C5399825
- •
- Disease or Syndrome
X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.
Joint contractures, osteochondromas, and B-cell lymphoma- MedGen UID:
- 1824078
- •Concept ID:
- C5774305
- •
- Disease or Syndrome
Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022).