A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

Melanie May, Lisbeth Tranebjærg, Elaine Kendall, +9

Nature Genetics

Neurodevelopmental DisordersGenetic DiseasesDevelopmental BiologyMendelian DisorderMental Deficiency +11

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

Ricardo C. Ferreira, Qiang Pan‐Hammarström, Robert Graham, +15

Nature Genetics

ImmunogeneticsAutoimmune DiseaseGeneticsImmunodeficienciesGenetic Epidemiology +10

Hereditary angioedema: The mutation spectrum of<i>SERPING1/C1NH</i>in a large Spanish cohort

O. Roche, Alvaro Blanch, Christiane Duponchel, +3

Human Mutation

Cellular Adhesion Mediated by Factor J, a Complement Inhibitor

Susana Larrucea, Carolina González-Rubio, Rosario Cambronero, +7

Journal of Biological Chemistry

Cell AdhesionImmunologyImmunologic MechanismCytoskeletonCellular Physiology +17

High-Density SNP Mapping of the HLA Region Identifies Multiple Independent Susceptibility Loci Associated with Selective IgA Deficiency

Ricardo C. Ferreira, Qiang Pan‐Hammarström, Robert Graham, +14

PLoS Genetics

HlaHistocompatibilityGeneticsHla ImmunogeneticsGenetic Epidemiology +26

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

Midori Mitui, Gabriela Coutinho, Xia Sun, +9

Human Mutation

Anti-IgA antibodies in selective IgA deficiency and in primary immunodeficient patients treated with γ-globulin

Antônio Walter Ferreira, M.C. García Rodríguez, Margarita López‐Trascasa, +2

Clinical Immunology and Immunopathology

Primary ImmunodeficiencyAnti-iga AntibodiesAllergyImmunodeficienciesIga Glomerulonephritis +9

MHC Susceptibility Genes to IgA Deficiency Are Located in Different Regions on Different HLA Haplotypes

Emilio G. de la Concha, Miguel Fernández‐Arquero, L. Gual, +6

The Journal of Immunology

Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations

Alvaro Blanch, O. Roche, Eduardo López‐Granados, +2

Human Mutation

BioinformaticsSpanish FamiliesAllelic VariantGenetic DisorderMedicine +13

Molecular basis for a severe case of leukocyte adhesion deficiency

Ángel L. Corbí, Alicia Vara, Ángeles Ursa, +3

European Journal of Immunology