X-linked combined immunodeficiency due to SASH3 deficiency

Definition

A rare non-severe combined immunodeficiency characterized by recurrent sinopulmonary/pulmonary, skin/soft tissue infections, warts and sepsis. Additional clinical features may include meningitis, dental abscesses, septic arthritis, progressive multifocal leukoencephalopathy, episodic bradycardia, bronchiectasis, granulomatous nodules, hypothyroidism, hypophosphatemia, enteropathy, nodular regenerative hyperplasia/hepatomegaly, liver granulomas, granulomatous skin lesions and aphthous ulcers. Infections could be bacterial, viral or fungal. Affected individuals present with refractory autoimmune cytopenias, hemolytic anemia, thrombocytopenia, lymphopenia, and decreased natural killer cells.