WHIM syndrome


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WHIM syndrome

acronym for genetic syndrome [MIM 193670] comprising warts, hypogammaglobulinemia, infections, and myelokathexis; autosomal dominant.

WHIM syndrome

acronym for genetic syndrome [MIM 193670] comprising warts, hypogammaglobulinemia, infections, and myelokathexis; autosomal dominant.
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M2 PHARMA-August 3, 2017-X4 Pharmaceuticals to Collaborate with Yale University to Study WHIM Syndrome
Cambridge, Massachusetts-based CXCR4 inhibitor drug developer X4 Pharmaceuticals has initiated a multi-year sponsored research program with Yale University to develop and study a genetic model of WHIM syndrome, a rare genetic immunodeficiency disease which currently has no approved treatments, the company said.
The multi-year research collaboration will investigate the fundamental mechanisms that result in chronic immune deficiency in a genetic preclinical model of WHIM syndrome.
The woman had been diagnosed as a child with WHIM syndrome, an immune disease caused by a mutation in a gene called CXCR4.
Like other WHIM syndrome patients, the woman had a large number of warts and was frequently hospitalized with infections.
Genetic mutations related to congenital neutropenia Disorder MIM# Inheritance 202700 AD 608233 AR SEVERE CONGENITAL 600871 AD NEUTROPENIA 605998 AR 138971 AR 300299 X-R Cyclic neutropenia 162800 AD Chediak-Higashi 214500 AR syndrome Cohen syndrome 216550 AR Griscelli syndrome 607624 AR Type 2 Shwachman-Diamond 260400 AR syndrome Cartilage hair 250250 AR hypoplasia Barth syndrome 302060 X-R X-linked 300300 X-R agammaglobulinemia WHIM syndrome 193,670 AD (?
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.
M2 PHARMA-January 31, 2017-X4 Pharmaceuticals Starts Phase 2/3 Clinical Study of X4P-001-LD in Patients with WHIM Syndrome
US-based biotechnology company X4 Pharmaceuticals has initiated a Phase 2/3 study with the first patient dosed with X4P-001-LD for the treatment of WHIM syndrome, a sub-type of a primary immunodeficiency disease characterised by warts, hypogammaglobulinemia, infections, and myelokathexis or "WHIM," the company said.
The company is developing X4P-001-LD, a low dose formulation of X4P-001 that is currently in clinical development for the treatment of certain cancers, for use as a chronic treatment for patients with WHIM Syndrome.
People with a rare disorder known as WHIM syndrome suffer warts and recurrent bacterial infections.
For several years, he and his colleagues have worked with five families in which WHIM syndrome is common.