Genopathy
Gene-Disorder Association · Article
Gene
SH3BP2
SH3 Domain Binding Protein 2
Disorder
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
First reported 2005
Key publication · disorder Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry.Immunity · 2005
Manually curated
Association Review

In brief

The association between SH3BP2 (SH3 Domain Binding Protein 2) and Autoinflammation, Antibody Deficiency, And Immune Dysregulation is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 31
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SH3BP2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Autoinflammation, Antibody Deficiency, And Immune Dysregulation

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

14 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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