Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia.

X-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin () gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infections. We report a patient with adult-onset neutropenia, lymphopenia, inadequate response to the pneumococcal polysaccharide vaccine (PPSV23), and recurrent bacterial infections associated with a hemizygous deletion.

Identification of ERAD-dependent degrons for the endoplasmic reticulum lumen.

Degrons are minimal protein features that are sufficient to target proteins for degradation. In most cases, degrons allow recognition by components of the cytosolic ubiquitin proteasome system. Currently, all of the identified degrons only function within the cytosol.

Identification of ERAD-dependent degrons for the endoplasmic reticulum lumen.

Degrons are minimal protein features that are sufficient to target proteins for degradation. In most cases, degrons allow recognition by components of the cytosolic ubiquitin proteasome system. Currently, all of the identified degrons only function within the cytosol.

Immune reconstitution and survival, following hematopoietic stem cell transplantation in Omani patients with inborn errors of immunity.

Background: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for certain inborn errors of immunity.

Methods: A 17-year retrospective cohort study was conducted on 40 immunodeficient patients who underwent HSCT.

Results: The median age at transplant was 11.

Cytomegalovirus Infection Post-hematopoietic Stem Cell Transplant: Incidence, Risk Factors, and Outcome in an Omani Cohort.

Objectives: To estimate the incidence, risk factors, and outcome of cytomegalovirus (CMV) infection during the first year following hematopoietic stem cell transplant (HSCT) among Omani patients.

Methods: This retrospective study included allogenic HSCT recipients between January 2006 and December 2018. We investigated the possible factors associated with CMV infection and CMV impact on one-year mortality.