Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities (Q35621987)

9 August 2017

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title

Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities (English)

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9 August 2017

E Richard Stiehm

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9 August 2017

Jeffrey E Ming

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9 August 2017

John M Graham

series ordinal

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9 August 2017

publication date

1 December 2003

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Critical Reviews in Clinical Laboratory Sciences

9 August 2017

published in

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9 August 2017

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9 August 2017

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9 August 2017

page(s)

587-642

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Malignant B‐cell lymphoma in an infant with severe combined immunodeficiency with short‐limbed skeletal dysplasia

9 August 2017

cites work

1 reference

Increased incidence of cancer in patients with cartilage-hair hypoplasia

21 January 2018

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Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

21 January 2018

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Cartilage-hair hypoplasia

21 January 2018

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

21 January 2018

1 reference

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

21 January 2018

1 reference

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

21 January 2018

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Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

21 January 2018

1 reference

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster

21 January 2018

1 reference

Kenny syndrome: description of additional abnormalities and molecular studies.

21 January 2018

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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

21 January 2018

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Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies

21 January 2018

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Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia

21 January 2018

1 reference

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency

21 January 2018

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Growth hormone deficiency and combined immunodeficiency

21 January 2018

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Immunodeficiency with increased immunoglobulin M associated with growth hormone insufficiency

21 January 2018

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Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

21 January 2018

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

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CHARGE syndrome: report of 47 cases and review

21 January 2018

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A recognizable syndrome within CHARGE association: Hall-Hittner syndrome

21 January 2018

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Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

21 January 2018

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Pathologic features of the CHARGE association: support for involvement of the neural crest.

21 January 2018

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Features of DiGeorge syndrome and CHARGE association in five patients

21 January 2018

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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 January 2018

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Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies.

21 January 2018

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Phenotypic spectrum and management issues in Kabuki syndrome.

21 January 2018

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Rubinstein-Taybi Syndrome with thymic hypoplasia

21 January 2018

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Rubinstein-Taybi syndrome with humoral and cellular defects: a case report.

21 January 2018

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

21 January 2018

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An apparently new syndrome of microcephalic primordial dwarfism and cataracts

21 January 2018

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Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome

21 January 2018

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Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease

21 January 2018

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Multiple gastrointestinal atresias with cystic dilatation of the biliary duct

21 January 2018

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Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency

21 January 2018

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A syndrome associating partial albinism and immunodeficiency

21 January 2018

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

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An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

21 January 2018

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Actinomycosis meningitis in a girl with incontinentia pigmenti.

21 January 2018

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Immunologic investigations in eight patients with incontinentia pigmenti

21 January 2018

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Incontinentia pigmenti. Evidence for both neutrophil and lymphocyte dysfunction

21 January 2018

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

21 January 2018

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

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Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

21 January 2018

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Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

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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)

21 January 2018

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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

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Dyskeratosis congenita: an inherited bone marrow failure syndrome

21 January 2018

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Dyskeratosis congenita: Hematologic evaluation of a sibship and review of the literature

21 January 2018

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

21 January 2018

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Clinical and laboratory diagnosis of acrodermatitis enteropathica

21 January 2018

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Zinc correction of defective chemotaxis in acrodermatitis enteropathica

21 January 2018

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Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

21 January 2018

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Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings

21 January 2018

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

21 January 2018

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Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

21 January 2018

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Exposing the human nude phenotype

21 January 2018

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New member of the winged-helix protein family disrupted in mouse and rat nude mutations

21 January 2018

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It was a very good year for DNA repair

21 January 2018

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Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

21 January 2018

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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

21 January 2018

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Antibody deficiency and alopecia

21 January 2018

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

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Genetic mapping of a second myotonic dystrophy locus

21 January 2018

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

21 January 2018

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Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism

21 January 2018

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Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype

21 January 2018

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Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

21 January 2018

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Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2

21 January 2018

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Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

21 January 2018

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Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

21 January 2018

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Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

21 January 2018

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Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

21 January 2018

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A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

21 January 2018

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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

21 January 2018

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Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

21 January 2018

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Periodontal findings in Cohen syndrome with chronic neutropenia

21 January 2018

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Cohen syndrome: essential features, natural history, and heterogeneity

21 January 2018

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Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.

21 January 2018

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Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?

21 January 2018

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Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition

21 January 2018

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Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient

21 January 2018

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A multiinstitutional survey of the Wiskott-Aldrich syndrome.

21 January 2018

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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

21 January 2018

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

21 January 2018

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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

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Partial V(D)J recombination activity leads to Omenn syndrome

21 January 2018

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Haematological abnormalities in Shwachman-Diamond syndrome

21 January 2018

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Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

21 January 2018

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Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

21 January 2018

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A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

21 January 2018

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Hereditary transcobalamin II deficiency: clinical findings in a new family

21 January 2018

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Oxidative damage to neutrophils in glutathione synthetase deficiency

21 January 2018

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Congenital folate malabsorption

21 January 2018

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Congenital isolated folic acid malabsorption

21 January 2018

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Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

21 January 2018

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Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

21 January 2018

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A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

21 January 2018

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Sepsis due to Escherichia coli in neonates with galactosemia

21 January 2018

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X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

21 January 2018

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A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

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The Natural History of the Inherited Methylmalonic Acidemias

21 January 2018

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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

21 January 2018

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Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

21 January 2018

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Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

21 January 2018

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Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia

21 January 2018

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B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

21 January 2018

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Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis

21 January 2018

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Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin

21 January 2018

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Hypergammaglobulinaemia, antibody deficiency, autoimmune haemolytic anaemia, and nephritis in an infant with a familial lymphopenic immune defect.

21 January 2018

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Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome

21 January 2018

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Pseudoachondroplasia with immune deficiency.

21 January 2018

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Deficiency of humoral immunity and hypoparathyroidism associated with the Hallerman-Streiff syndrome

21 January 2018

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Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome

21 January 2018

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Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

21 January 2018

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Engelmann's disease of bone--a systemic disorder?

21 January 2018

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Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

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Proteus syndrome and immunodeficiency

21 January 2018

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Bloom's syndrome. XX. The first 100 cancers

21 January 2018

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The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

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ICF syndrome: a new case and review of the literature

21 January 2018

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Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

21 January 2018

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DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

21 January 2018

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Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

21 January 2018

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Evidence for at Least Eight Fanconi Anemia Genes

21 January 2018

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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

21 January 2018

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Positional cloning of the Fanconi anaemia group A gene

21 January 2018

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Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

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The Fanconi anaemia proteins, FAA and FAC interact to form a nuclear complex

21 January 2018

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The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

21 January 2018

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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

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ATM associates with and phosphorylates p53: mapping the region of interaction

21 January 2018

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Multiple ATM-dependent pathways: an explanation for pleiotropy

21 January 2018

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Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

21 January 2018

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ATM-dependent phosphorylation of nibrin in response to radiation exposure

21 January 2018

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Nijmegen breakage syndrome

21 January 2018

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Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

21 January 2018

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Positional cloning of the gene for Nijmegen breakage syndrome

21 January 2018

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Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

21 January 2018

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The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

21 January 2018

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ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

21 January 2018

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ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response

21 January 2018

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

21 January 2018

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Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

21 January 2018

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Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

21 January 2018

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Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.

21 January 2018

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Immune dysfunction in Down's syndrome: primary immune deficiency or early senescence of the immune system?

21 January 2018

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Partial impairment of immune functions in peripheral blood leukocytes from aged men with Down's syndrome.

21 January 2018

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Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician

21 January 2018

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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

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Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

21 January 2018

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DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization

21 January 2018

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

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A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

21 January 2018

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Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

21 January 2018

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

21 January 2018

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

21 January 2018

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Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene

21 January 2018

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Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

21 January 2018

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An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

21 January 2018

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GATA3 haplo-insufficiency causes human HDR syndrome

21 January 2018

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Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

21 January 2018

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A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

21 January 2018

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Antibody deficiency in Wolf-Hirschhorn syndrome

21 January 2018

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Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis

21 January 2018

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21 January 2018

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

21 January 2018

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CHARGE association: an update and review for the primary pediatrician

21 January 2018

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Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

21 January 2018

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A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

21 January 2018

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Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura

21 January 2018

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Hypogonadotrophic hypogonadism in Roifman syndrome

21 January 2018

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Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion

21 January 2018

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9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF02312515

Immune functions in methylmalonicaciduria

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF01805612

Identifiers

DOI

10.1080/714037692

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9 August 2017

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