C4B deficiency is caused by mutation in the C4B gene. [From OMIM]
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
6p21.33
C4B deficiency is caused by mutation in the C4B gene. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614379.1 | United Arab Emirates | Female | Yes | Juvenile rheumatoid arthritis; Arthropa... Juvenile rheumatoid arthritis; Arthropathy; Decreased serum complement C4  | NM_001002029.3:c.(?_3231)_(3387_?)del | Homozygous | Autosomal, Recessive | Fathalla et al. 2021 | Homozygous for an ex... |