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A human immunodeficiency syndrome caused by mutations in CARMIL2

Nature communications, 2017-01, Vol.8 (1), p.14209-13, Article 14209

2017

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Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern

Allergy (Copenhagen), 2014-07, Vol.69 (7), p.943-953

2014

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Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy

Clinical and experimental immunology, 2012-08, Vol.169 (2), p.172-181

2012

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Classification of non-bacterial osteitis : Retrospective study of clinical, immunological and genetic aspects in 89 patients

Rheumatology (Oxford, England), 2007, Vol.46 (1), p.154-160

2007

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Efficacy and safety of Hizentra® in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy

Clinical immunology (Orlando, Fla.), 2011-10, Vol.141 (1), p.90-102

2011

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Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment

Annals of the rheumatic diseases, 2008-09, Vol.67 (9), p.1292-1298

2008

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The German national registry for primary immunodeficiencies (PID)

Clinical and experimental immunology, 2013-08, Vol.173 (2), p.372-380

2013

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Immunogenicity, reactogenicity, and safety of a seven-valent pneumococcal conjugate vaccine (PCV7) concurrently administered with a fully liquid DTPa–IPV–HBV–Hib combination vaccine in healthy infants

Vaccine, 2008-06, Vol.26 (25), p.3142-3152

2008

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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Journal of medical genetics, 2008-02, Vol.45 (2), p.93-99

2008

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Home-based subcutaneous immunoglobulin G replacement therapy under real-life conditions in children and adults with antibody deficiency

European journal of medical research, 2010-06, Vol.15 (6), p.238-245, Article 238

2010

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X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

Clinical immunology (Orlando, Fla.), 2013-10, Vol.149 (1), p.133-141

2013

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Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation

Klinische Padiatrie, 2010-11, Vol.222 (6), p.351-355

2010

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Positional cloning of the gene for Nijmegen breakage syndrome

Nature genetics, 1998-06, Vol.19 (2), p.179-181

1998

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Clinical and epidemiological picture of B pertussis and B parapertussis infections after introduction of acellular pertussis vaccines

Archives of disease in childhood, 2003-08, Vol.88 (8), p.684-687

2003

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The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Clinical and experimental immunology, 2014-06, Vol.176 (3), p.387-393

2014

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Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP)

Human molecular genetics, 1999-12, Vol.8 (13), p.2407-2413

1999

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Administration of hepatitis A vaccine at 6 and 12 months of age concomitantly with hexavalent (DTaP–IPV–PRP∼T–HBs) combination vaccine

Vaccine, 2007-10, Vol.25 (43), p.7549-7558

2007

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Immunoglobulin E in primary immunodeficiency diseases

Allergy (Copenhagen), 2002-11, Vol.57 (11), p.995-1007

2002

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Airway inflammation in children with tracheostomy

Pediatric pulmonology, 2004-04, Vol.37 (4), p.356-361

2004

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Successful SCT for Nijmegen breakage syndrome

Bone marrow transplantation (Basingstoke), 2010-04, Vol.45 (4), p.622-626

2010

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Inflammatory pseudotumor (IPT)—surgical cure of an inflammatory syndrome

European journal of pediatrics, 2016-07, Vol.175 (7), p.903-908

2016

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Hospitalization and complications in children under 2 years of age with Bordetella pertussis infection

Infection, 2000-03, Vol.28 (2), p.106-110

2000

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ICOS deficiency in patients with common variable immunodeficiency

Clinical immunology (Orlando, Fla.), 2004-12, Vol.113 (3), p.234-240

2004

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Treatment of relapsing Mycobacterium avium infection with interferon-gamma and interleukin-2 in an HIV-negative patient with low CD4 syndrome

International journal of infectious diseases, 2010-09, Vol.14, p.e198-e201

2010

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Complications after caesarean section in HIV-1-infected women not taking antiretroviral treatment

The Lancet (British edition), 1999-11, Vol.354 (9190), p.1612-1613

1999

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A human immunodeficiency syndrome caused by mutations in CARMIL2

Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern

Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy

Classification of non-bacterial osteitis : Retrospective study of clinical, immunological and genetic aspects in 89 patients

Efficacy and safety of Hizentra® in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy

Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment

The German national registry for primary immunodeficiencies (PID)

Immunogenicity, reactogenicity, and safety of a seven-valent pneumococcal conjugate vaccine (PCV7) concurrently administered with a fully liquid DTPa–IPV–HBV–Hib combination vaccine in healthy infants

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Home-based subcutaneous immunoglobulin G replacement therapy under real-life conditions in children and adults with antibody deficiency

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation

Positional cloning of the gene for Nijmegen breakage syndrome

Clinical and epidemiological picture of B pertussis and B parapertussis infections after introduction of acellular pertussis vaccines

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP)

Administration of hepatitis A vaccine at 6 and 12 months of age concomitantly with hexavalent (DTaP–IPV–PRP∼T–HBs) combination vaccine

Immunoglobulin E in primary immunodeficiency diseases

Airway inflammation in children with tracheostomy

Successful SCT for Nijmegen breakage syndrome

Inflammatory pseudotumor (IPT)—surgical cure of an inflammatory syndrome

Hospitalization and complications in children under 2 years of age with Bordetella pertussis infection

ICOS deficiency in patients with common variable immunodeficiency

Treatment of relapsing Mycobacterium avium infection with interferon-gamma and interleukin-2 in an HIV-negative patient with low CD4 syndrome

Complications after caesarean section in HIV-1-infected women not taking antiretroviral treatment

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