WHIM syndrome 1

WHIM syndrome 1 is a rare, congenital, autosomal dominant immune deficiency. It is characterized by an abnormal retention of mature neutrophils in the bone marrow, a condition known as myelokathexis. This disorder can lead to an increased risk for bacterial infections. People with WHIM syndrome 1 may also have occasional low levels of antibodies (hypogammaglobulinemia) and are more susceptible to lesions caused by human papillomavirus (HPV), such as cutaneous warts, genital dysplasia, and invasive mucosal carcinoma.

Common signs of WHIM syndrome 1 include frequent bacterial infections and skin lesions such as cutaneous warts. There is also a risk for genital dysplasia and invasive mucosal carcinoma due to HPV infection. These symptoms are related to both the inability to properly release neutrophils from the bone marrow and occasional low levels of antibodies.

WHIM syndrome 1 is caused by a genetic mutation inherited in an autosomal dominant pattern. This mutation leads to abnormal retention of mature neutrophils in the bone marrow and can occasionally cause low antibody levels. Detailed gene information is not available from the provided sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.