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1.

Immunodeficiency 79

Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by Lisco et al., 2021). [from OMIM]

MedGen UID:
1783683
Concept ID:
C5543220
Disease or Syndrome
2.

Okt4 epitope deficiency

MedGen UID:
462729
Concept ID:
C3151379
Disease or Syndrome

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