Familial hyperthyroidism due to mutations in TSH receptor- MedGen UID:
- 373154
- •Concept ID:
- C1836706
- •
- Disease or Syndrome
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Thyroid hormone resistance, generalized, autosomal recessive- MedGen UID:
- 483749
- •Concept ID:
- C3489796
- •
- Disease or Syndrome
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
Immunodeficiency, common variable, 10- MedGen UID:
- 816321
- •Concept ID:
- C3809991
- •
- Disease or Syndrome
Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Proteasome-associated autoinflammatory syndrome 2- MedGen UID:
- 1648482
- •Concept ID:
- C4747989
- •
- Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).
For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).
Immunodeficiency 64- MedGen UID:
- 1684716
- •Concept ID:
- C5231402
- •
- Disease or Syndrome
Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018).
Immunodeficiency 89 and autoimmunity- MedGen UID:
- 1794237
- •Concept ID:
- C5562027
- •
- Disease or Syndrome
Immunodeficiency-89 and autoimmunity (IMD89) is an autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease (see 266600) (Yang et al., 2020).