Certain infectious and parasitic diseases
Autosomal recessive
22q11.1
Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A, IL17F, IL17A/F, and IL17E. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613953.1 | Morocco | Male | Yes | Chronic mucocutaneous candidiasis; Pustu... Chronic mucocutaneous candidiasis; Pustule; Folliculitis  | NM_014339.7:c.850C>T | Homozygous | Autosomal, Recessive | Lévy et al. 2016; Puel et al. 2011 | Patient from 'kindre... | |
| 613953.2.1 | Saudi Arabia | Male | Yes | Yes | Chronic oral candidiasis Chronic oral candidiasis | NM_014339.7:c.112_119del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Patient from 'kindre... |
| 613953.2.2 | Saudi Arabia | Female | Yes | Yes | Chronic oral candidiasis Chronic oral candidiasis | NM_014339.7:c.112_119del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Sister of 613953.2.1 |
| 613953.3.1 | Algeria | Female | Yes | Chronic mucocutaneous candidiasis Chronic mucocutaneous candidiasis | NM_014339.7:c.163+1G>A | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Patient from 'kindre... | |
| 613953.4.1 | Saudi Arabia | Female | Yes | Yes | Chronic mucocutaneous candidiasis Chronic mucocutaneous candidiasis | NM_014339.7:c.268del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Patient from 'kindre... |
| 613953.4.2 | Saudi Arabia | Male | Yes | Yes | Chronic mucocutaneous candidiasis Chronic mucocutaneous candidiasis | NM_014339.7:c.268del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Brother of 613953.4.... |
| 613953.4.3 | Saudi Arabia | Male | Yes | Yes | Chronic mucocutaneous candidiasis; Folli... Chronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosis | NM_014339.7:c.268del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Cousin of 613953.4.1 |
| 613953.4.4 | Saudi Arabia | Male | Yes | Yes | Chronic mucocutaneous candidiasis; Folli... Chronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosis | NM_014339.7:c.268del | Homozygous | Autosomal, Recessive | Lévy et al. 2016 | Cousin of 613953.4.1 |
| 613953.5 | Saudi Arabia | Male | Yes | Immunodeficiency Immunodeficiency | NM_014339.7:c.112_119del | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 613953.6 | Saudi Arabia | Male | Yes | Chronic oral candidiasis Chronic oral candidiasis | NM_014339.7:c.721del | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 613953.7 | Saudi Arabia | Male | Onycholysis; Ichthyosis; Chronic mucocut... Onycholysis; Ichthyosis; Chronic mucocutaneous candidiasis | NM_014339.7:c.1574T>C | Homozygous | Autosomal, Recessive | Monies et al. 2017 |