<unk>  is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment.
Omenn syndrome
Wildervanck syndrome
Malouf syndrome
Hanhart syndrome
Aagenaes syndrome
Gleich's syndrome
Kocher–Debre–Semelaigne syndrome
Pelger–Huët anomaly