Recurrent sinus and lung infection, that is, prone to repeated pneumonia, sinusitis, otitis media.Patients with HyperIgM Syndrome type 1 or HyperIgM Syndrome type 3 share similar characteristics and lead to both humoral and cellular immunodeficiency, known as "combined immunodeficiency".What are the manifestations of Hyper IgM Syndrome type 1 or Hyper IgM Syndrome type 3? That is to say, people who carry two disease-causing genes only get sick. The UNG defect and the CD40 defect are also autosomal recessive. The second most common form of hyperIgM syndrome is AID deficiency, which generally follows autosomal recessive inheritance. The most common form of hyperIgM syndrome is CD40L deficiency, which follows the X-linked recessive inheritance rule, that is, women carrying the causative gene generally do not develop the disease, while men carrying the causative gene do. High IgM syndrome type 4 with unknown molecular basis.Downstream of DNA cleavage in the switch (S) region, there was a defect of class switch recombination.Uracil N- glycosylase (UNG) deficiency, also known as hyperIgM syndrome type 5.Activated-induced cytidine deaminase (AID) deficiency, also known as hyperIgM syndrome type 2.CD40 deficiency, also known as hyperIgM syndrome type 3.CD40L deficiency, also known as hyperIgM syndrome type 1.
Common variant immunodeficiency disease.MutS homolog 6(Mutator S homolog 6, MSH6) defect.Activated phosphatidylinositol 3-kinase syndrome (activated PI3K-δ syndrome).What genetic conditions can cause Hyper IgM Syndrome? CD40 defects and UNG defects are only reported on a case by case basis.Ī range of genetic disorders, congenital rubella syndrome, T cell leukemia or lymphoma, and even oral phenytoin sodium can cause an increase in blood IgM. The exact onset data for AID defects are unknown, but are estimated at one in a million. The incidence of CD40L defects is two parts per million. CD40 defect (hyper igm syndrome type 3).CD40L defect (hyper igm syndrome type 1).What are the most common types of hyper igm synthes? What conditions can cause an increase in serum IgM?Ī range of genetic disorders, congenital rubella syndrome, T cell leukemia or lymphoma, and even oral phenytoin sodium can cause an increase in blood IgM. Hyper IgM Syndrom, also known as high immunoglobulin M syndrome, is a group of diseases with elevated (or normal) serum IgM accompanied by decreased levels of other immunoglobulins (IgA, IgG, and IgE) for various reasons, and the patients may present with low resistance and easy infection.
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