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Article

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

The Journal of allergy and clinical immunology - 1 Mar 2016

Scarselli Alessia, Di Cesare Silvia, Di Matteo Gigliola, De Matteis Arianna, Ariganello Paola, Romiti Maria Luisa, Cascioli Simona, De Vito Rita, Bertaina Alice, Locatelli Franco, Gaspar H Bobby, Aiuti Alessandro, Rossi Paolo, Gilmour Kimberly, Cancrini Caterina

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Topics

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Share to B-Lymphocytes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Granuloma

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Share to Janus Kinase 3

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Source

Identifiers

PMID: 26545580
DOI: 10.1016/j.jaci.2015.09.017

Genes

JAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.PMID 26545580Read ↗

Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency.Semantic proximity Read ↗

Common Variable Immunodeficiency or Late-Onset Combined Immunodeficiency: A New Hypomorphic JAK3 Patient and Review of the Literature.Semantic proximity Read ↗

Unusual presentation of combined immunodeficiency in a child with homozygous DOCK8 mutation.Semantic proximity Read ↗

[Common variable immunodeficiency with JAK3 mutation: a case report].Semantic proximity Read ↗

Cutaneous tuberculosis in a patient with a STAT1 mutation.Semantic proximity Read ↗

A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.Semantic proximity Read ↗

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.Semantic proximity Read ↗

Germline JAK2 L611S mutation in a child with thrombocytosis.Semantic proximity Read ↗

Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation-Case Report.Semantic proximity Read ↗

An immunodeficiency disease with RAG mutations and granulomas.Semantic proximity Read ↗

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.Semantic proximity Read ↗

Polycythemia vera in a 2-year-old child with a JAK2 exon 12 deletion.Semantic proximity Read ↗

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