Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
2q32.2
IMD31B results from autosomal recessive STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA/IFNB (type I interferon) and IFNG (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613796.1.1 | Saudi Arabia | Female | No | Yes | Recurrent mycobacterial infections; Recu... Recurrent mycobacterial infections; Recurrent viral infections; Death in infancy  | NM_007315.4:c.1760_1761del | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021; Dupuis et al. 2003 | |
| 613796.2.1 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections; Deat... Recurrent mycobacterial infections; Death in infancy | NM_007315.4:c.1799T>C | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021; Dupuis et al. 2003 | |
| 613796.2.2 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections; Deat... Recurrent mycobacterial infections; Death in infancy | NM_007315.4:c.1799T>C | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | First cousin of 6137... |
| 613796.2.3 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections; Deat... Recurrent mycobacterial infections; Death in infancy | NM_007315.4:c.1799T>C | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | First cousin of 6137... |
| 613796.3 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections; Deat... Recurrent mycobacterial infections; Death in infancy | NM_007315.4:c.1760_1761del | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | Patient had 2 simila... |
| 613796.4.1 | Saudi Arabia | Male | No | Yes | Recurrent mycobacterial infections; Recu... Recurrent mycobacterial infections; Recurrent viral infections; Recurrent fungal infections | NM_007315.4:c.185C>G | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | |
| 613796.5.1 | United Arab Emirates | Female | No | Yes | Recurrent mycobacterial infections; Recu... Recurrent mycobacterial infections; Recurrent viral infections; Death in infancy | NM_007315.4:c.693_696del | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | |
| 613796.6.1 | Palestine | Female | No | Yes | Recurrent bacterial infections Recurrent bacterial infections | NM_007315.4:c.1852G>T | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | |
| 613796.7.1 | Palestine | Male | Yes | Yes | Recurrent bacterial infections; Recurren... Recurrent bacterial infections; Recurrent mycobacterial infections; Recurrent viral infections | NM_007315.4:c.2086C>T | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | |
| 613796.7.2 | Palestine | Female | Yes | Yes | Recurrent bacterial infections; Recurren... Recurrent bacterial infections; Recurrent mycobacterial infections; Recurrent viral infections | NM_007315.4:c.2086C>T | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | Sister of 613796.7.1 |
| 613796.8.1 | Saudi Arabia | Male | Yes | Yes | Recurrent mycobacterial infections; Recu... Recurrent mycobacterial infections; Recurrent viral infections | NM_007315.4:c.603G>T | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021; Kong et al. 2010 | |
| 613796.8.2 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections Recurrent mycobacterial infections | NM_007315.4:c.603G>T | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021; Kong et al. 2010 | Sister of 613796.8.1 |
| 613796.9 | Saudi Arabia | Female | Yes | Yes | Recurrent mycobacterial infections; Recu... Recurrent mycobacterial infections; Recurrent viral infections; Recurrent fungal infections; Death in infancy | NM_007315.4:c.1220T>G | Homozygous | Autosomal, Recessive | Le Voyer et al. 2021 | Patient had a simila... |