Genetic immunodeficiencies: Cutaneous manifestations and recent progress

Reviewing Omenn syndrome

“…The dierential diagnosis of OS includes severe atopic dermatitis, graft versus host disease (GVHD), and histiocytosis X. Occasionally, the clinical picture of OS is seen in other immunode®ciency syndromes [1,17]. The clinical features of OS are similar to those one would expect to ®nd in GVHD.…”

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

“…1 Other common symptoms include diarrhea, alopecia, and failure to thrive. 2 Occasionally, a similar clinical phenotype may be noticed in other immunodeficiency syndromes, [3][4][5][6] and particularly in SCID with maternal T-cell engraftment.…”

Generalized verrucosis: A review of the associated diseases, evaluation, and treatments

“…Laboratory data include low levels of serum IgM levels, normal IgG, and elevated IgA and IgE. 95 Only two cases of generalized verrucosis associated with WAS have been reported in the literature. One case of a 2-year-old child with WAS developed verruca at numerous cutaneous sites.…”

“…Bleeding is usually the earliest symptom, often presenting with petechiae or mucosal bleeding. [95][96][97] Bacterial infections, commonly by Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae, usually present in early infancy, and worsen with age. Finally, eczema with or without bacterial superinfection affects over half the WAS population in the first year of life.…”

“…Of note, during young adulthood, patients with WAS also become susceptible to skin malignancies, especially lymphomas. 95,96 The pathogenesis of WAS has been linked to over 300 mutations of the WAS protein on chromosome Xp11.22-p11.23. 98 These mutations have been linked to varying degrees of disease severity.…”