Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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Neurological Manifestations of Primary Immunodeficiencies

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P1476

Neurological Manifestations of Primary Immunodeficiencies

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P2093

Amir Hashemitari

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Sepideh Darougar

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Zahra Chavoshzadeh

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P2860

Nijmegen breakage syndrome (NBS)

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Schimke immuno-osseous dysplasia: a clinicopathological correlation

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

Natural history of mevalonate kinase deficiency: a literature review

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

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7-23

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scholarly article

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English

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P478

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P577

2018-01-01T00:00:00Z

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30026765

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6045935

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