Autosomal recessive combined immunodeficiency

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Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

ORPHA:656283Disease

Also called AR CID due to complete GP130 deficiency · AR CID due to complete IL6ST deficiency · Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency · Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency · Stüve-Wiedemann syndrome type 2

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Disease

Gene

IL6STDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

D81.8filed under a broader ICD-10 category — shared with 49 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0958115MONDO 958115OMIM 619751UMLS C5925103

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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