A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.

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X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

P2860

Q47844436-48851828-20EA-4003-9A3B-7BDFA2ADE2C4

P2860

A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.

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name

A novel CD40LG deletion causes ...... ession in a 6-month-old child.

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type

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A novel CD40LG deletion causes ...... ession in a 6-month-old child.

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A novel CD40LG deletion causes ...... ession in a 6-month-old child.

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P1476

A novel CD40LG deletion causes ...... ession in a 6-month-old child.

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P2093

Alexander Vargas-Hernández

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Emmanuel Ramírez-Sánchez

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Gabriela López-Herrera

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Laura Berrón-Ruíz

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Marco Antonio Yamazaki-Nakashimada

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P2860

2 A crystal structure of an extracellular fragment of human CD40 ligand

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.

Immunoglobulin class-switch DNA recombination: induction, targeting and beyond.

The hyper IgM syndromes.

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.

Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

P2888

s12026-015-8638-0

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89-94

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scholarly article

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10.1007/S12026-015-8638-0

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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Leopoldo Santos-Argumedo

Francisco Espinosa-Rosales

José L Maravillas-Montero

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2015-05-01T00:00:00Z

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P6179

1047437711

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P698

25752457

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A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.

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P2860

P2860

A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.

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P1433

P1476

P2093

P2860

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P356

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P50

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P478

P50

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