Disease Directory

Combined immunodeficiency due to MALT1 deficiency is a rare primary immunodeficiency disorder that impacts multiple body systems including the immune,...

Combined immunodeficiency due to ORAI1 deficiency is a very rare inherited condition caused by dysfunction of calcium release activated channels, whic...

Combined immunodeficiency due to OX40 deficiency is a rare disorder affecting both T and B cell functions, leading to a compromised immune system. Aff...

Combined immunodeficiency due to POLE2 deficiency is a disorder that primarily affects the immune system, leaving individuals more vulnerable to infec...

Combined immunodeficiency due to RELA haploinsufficiency is a disorder affecting the immune system, leading to an increased susceptibility to infectio...

Combined immunodeficiency due to STIM1 deficiency is a form of combined immunodeficiency that affects the immune system and other organ systems, and i...

Combined immunodeficiency due to STK4 deficiency is a rare genetic disorder affecting both T and B cells, leading to a weakened immune system and a ra...

Combined immunodeficiency due to TBX1 deficiency is a disorder that affects the immune system, leading to a compromised ability to fight infections. A...

Combined immunodeficiency due to ZAP70 deficiency is a very rare and severe immunological disorder that affects the immune system, leading to signific...

Combined immunodeficiency due to moesin deficiency is an immunological condition that compromises the body’s ability to defend against infections. It...

Combined immunodeficiency due to partial RAG1 deficiency is a disorder affecting the immune system, where both T and B cell functions are compromised....

Combined immunodeficiency syndrome is a condition characterized by an impaired immune system along with involvement of other organ systems. This condi...

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare immune disorder that affects multiple body systems, particularly the...

Combined immunodeficiency with skin granulomas is a disorder affecting the immune system and skin, where the body has difficulty fending off infection...

Combined immunodeficiency, X-linked, is caused by variants in the IL2RG gene, which plays a critical role in the immune system. This condition is inhe...

Combined lung carcinoma is a malignant tumor of the lung characterized by the presence of both neuroendocrine cells and malignant glandular or squamou...

Combined malonic and methylmalonic acidemia is an inborn error of metabolism that leads to the accumulation of malonic acid and methylmalonic acid in...

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 is a complex connective tissue disorder that presents with features overlapping both ost...

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 is a connective tissue disorder that primarily affects the bones, skin, and other suppor...

Combined oxidative phosphorylation defect type 11 is a condition that disrupts the body’s energy production due to mutations in the RMND1 gene. It aff...