DOCK8 deficiency in six Iranian patients

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Abstract: DOCK8 deficiency is a rare autosomal recessive combined immunodeficiency with high IgE level, eosinophilia, severe eczema, extensive cutaneous viral, and respiratory bacterial infections, mostly in populations with higher prevalence of consanguinity. Molecular diagnosis of this gene is a useful approach for early diagnosis and timely HSCT due to deleterious consequences

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Clinical case reports. - 4, 6 (2016) , 593-600, ISSN: 2050-0904

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2019

Creator: Saghafi, Shiva
Pourpak, Zahra
Nussbaumer, Franziska
Fazlollahi, Mohammad Reza
Houshmand, Massoud
Hamidieh, Amir Ali
Bemanian, Mohammad Hassan
Nabavi, Mohammad
Parvaneh, Nima
Grimbacher, Bodo
Moin, Mostafa
Glocker, Cristina

DOI: 10.1002/ccr3.574

URN: urn:nbn:de:bsz:25-freidok-1360102

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

Last update: 15.08.2025, 7:25 AM CEST

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Associated

Saghafi, Shiva
Pourpak, Zahra
Nussbaumer, Franziska
Fazlollahi, Mohammad Reza
Houshmand, Massoud
Hamidieh, Amir Ali
Bemanian, Mohammad Hassan
Nabavi, Mohammad
Parvaneh, Nima
Grimbacher, Bodo
Moin, Mostafa
Glocker, Cristina
Universität

Time of origin

2019

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DOCK8 deficiency in six Iranian patients

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Other Objects (12)

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

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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

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Klinische Erforschung der CTLA-4-Insuffizienz

Health-related quality of life, depression and anxiety in adult patients with chronic granulomatous disease

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Observation and long-term follow-up of patients with isolated hypogammaglobulinaemia at the Royal Free Hospital, London

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

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

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

Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes

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

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

Immunological phenotype of LRBA-deficient mice

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

Klinische Erforschung der CTLA-4-Insuffizienz

Health-related quality of life, depression and anxiety in adult patients with chronic granulomatous disease

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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

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Health-related quality of life, depression and anxiety in adult patients with chronic granulomatous disease

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

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