Hyper-IgM syndrome type 2- MedGen UID:
- 354548
- •Concept ID:
- C1720956
- •
- Disease or Syndrome
Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.
For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
Hyper-IgM syndrome type 5- MedGen UID:
- 328420
- •Concept ID:
- C1720958
- •
- Disease or Syndrome
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
Lymphatic malformation 12- MedGen UID:
- 1823976
- •Concept ID:
- C5774203
- •
- Disease or Syndrome
Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).