ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Disease models & mechanisms. - 16, 7 (2023) , dmm050145, ISSN: 1754-8411

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2023

Creator: Sindram, Elena
Caballero Oteyza, Andrés
Kogata, Naoko
Huang, Shaina
Alizadeh, Zahra
Gámez, Laura
Fazlollahi, Mohammad Reza
Peng, Xiao P.
Grimbacher, Bodo
Way, Michael
Proietti, Michele

DOI: 10.1242/dmm.050145

URN: urn:nbn:de:bsz:25-freidok-2378193

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:42 PM CET

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Associated

Sindram, Elena
Caballero Oteyza, Andrés
Kogata, Naoko
Huang, Shaina
Alizadeh, Zahra
Gámez, Laura
Fazlollahi, Mohammad Reza
Peng, Xiao P.
Grimbacher, Bodo
Way, Michael
Proietti, Michele
Universität

Time of origin

2023

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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

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Immunological phenotype of LRBA-deficient mice

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

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ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

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Other Objects (12)

Evaluation and management of deficiency of adenosine deaminase 2 : : an international consensus statement

Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphoma

Identifikation des genetischen Defekts in einer iranischen Familie mit chronischer mucocutaner Candidose

Late-onset antibody deficiency due to monoallelic alterations in NFKB1

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Klinische Erforschung der CTLA-4-Insuffizienz

STAT1-Mutationen in einer Kohorte von 62 Patienten mit chronischer mukokutaner Kandidose

Inborn errors of immunity associated with defects of self‐tolerance checkpoints: the CD28 family

Immunological phenotype of LRBA-deficient mice

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Rapid flow cytometry-based test for the diagnosis of lipopolysaccharide responsive beige-like anchor (LRBA) deficiency

Evaluation and management of deficiency of adenosine deaminase 2 : : an international consensus statement

Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphoma

Identifikation des genetischen Defekts in einer iranischen Familie mit chronischer mucocutaner Candidose

Late-onset antibody deficiency due to monoallelic alterations in NFKB1

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Klinische Erforschung der CTLA-4-Insuffizienz

STAT1-Mutationen in einer Kohorte von 62 Patienten mit chronischer mukokutaner Kandidose

Inborn errors of immunity associated with defects of self‐tolerance checkpoints: the CD28 family

Immunological phenotype of LRBA-deficient mice

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Rapid flow cytometry-based test for the diagnosis of lipopolysaccharide responsive beige-like anchor (LRBA) deficiency

Evaluation and management of deficiency of adenosine deaminase 2 : : an international consensus statement

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Identifikation des genetischen Defekts in einer iranischen Familie mit chronischer mucocutaner Candidose

Late-onset antibody deficiency due to monoallelic alterations in NFKB1

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

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STAT1-Mutationen in einer Kohorte von 62 Patienten mit chronischer mukokutaner Kandidose

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Rapid flow cytometry-based test for the diagnosis of lipopolysaccharide responsive beige-like anchor (LRBA) deficiency

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