Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
5q35.1
Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616433.1 | Lebanon | Male | Yes | Abnormal T cell count; Recurrent pneumon... Abnormal T cell count; Recurrent pneumonia  | NM_004946.2:c.3724_3725dup | Homozygous | Autosomal, Recessive | Dobbs et al. 2015 |