ICON: the early diagnosis of congenital immunodeficiencies.

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ICON: the early diagnosis of congenital immunodeficiencies.

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ICON: the early diagnosis of congenital immunodeficiencies.

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ICON: the early diagnosis of congenital immunodeficiencies.

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P1476

ICON: the early diagnosis of congenital immunodeficiencies.

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P2093

Amos Etzioni

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Antonio Condino-Neto

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Elena Perez

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Francoise Le Deist

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John Routes

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John Sleasman

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Kathleen E Sullivan

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Lisa Kobrynski

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Maria Teresa De La Morena

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Mario Abinun

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P2860

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Combined immunodeficiency associated with DOCK8 mutations

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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s10875-014-0003-x

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398-424

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scholarly article

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10.1007/S10875-014-0003-X

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2014-03-12T00:00:00Z

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1037298642

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24619621

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P921

birth defect