Related references
Note: Only part of the references are listed.Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
Jessica C. de Greef et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome
Rachel M. Blundred et al.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2011)
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Tracy A. Briggs et al.
NATURE GENETICS (2011)
Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature
Norma Decaminada et al.
CHILDS NERVOUS SYSTEM (2010)
A review on the vascular features of the hyperimmunoglobulin E syndrome
H. Yavuz et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2010)
NOD2-associated diseases: Bridging innate immunity and autoinflammation
Arturo Borzutzky et al.
CLINICAL IMMUNOLOGY (2010)
Defects in the Leukocyte Adhesion Cascade
Amos Etzioni
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2010)
Inflammasome and IL-1β-Mediated Disorders
Hal M. Hoffman et al.
CURRENT ALLERGY AND ASTHMA REPORTS (2010)
Eponym - Kostmann disease
Caner Aytekin et al.
EUROPEAN JOURNAL OF PEDIATRICS (2010)
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations
Muhammad Faiyaz-Ul-Haque et al.
EUROPEAN JOURNAL OF PEDIATRICS (2010)
Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy
Sumit Gupta et al.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2010)
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
Matt Wenham et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature
Yael Gazit et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2010)
The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function
Elizabeth N. Kerr et al.
JOURNAL OF PEDIATRICS (2010)
Cryopyrin-associated periodic syndromes: background and therapeutics
Tetsuo Kubota et al.
MODERN RHEUMATOLOGY (2010)
Pediatric neurological syndromes and inborn errors of purine metabolism
Marcella Camici et al.
NEUROCHEMISTRY INTERNATIONAL (2010)
A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy
Hiroyuki Kinoshita et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2010)
Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia
Phenix-Lan Quan et al.
EMERGING INFECTIOUS DISEASES (2010)
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
Regina Waltes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
Udo zur Stadt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review
Leonardo Punzi et al.
AUTOIMMUNITY REVIEWS (2009)
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
Cornelia Zeidler et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage
Grant S. Stewart et al.
CELL (2009)
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
C. M. Roifman et al.
CLINICAL GENETICS (2009)
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy
Aisha V. Sauer et al.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Ligase IV syndrome
Dimitry A. Chistiakov et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS
Erin R. P. Shull et al.
GENES & DEVELOPMENT (2009)
Severe Congenital Neutropenia
Karl Welte et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2009)
Shwachman-Diamond Syndrome: A Review of the Clinical Presentation,, Molecular Pathogenesis, Diagnosis, and Treatment
Lauri Burroughs et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2009)
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
Yanick J. Crow et al.
HUMAN MOLECULAR GENETICS (2009)
Neutropenia and Primary Immunodeficiency Diseases
Nima Rezaei et al.
INTERNATIONAL REVIEWS OF IMMUNOLOGY (2009)
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
Karin R. Engelhardt et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Identification of SMARCAL1 as a Component of the DNA Damage Response
Lisa Postow et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Combined Immunodeficiency Associated with DOCK8 Mutations
Qian Zhang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
A Novel Mutation in a Family With DNA Ligase IV Deficiency Syndrome
Sule Unal et al.
PEDIATRIC BLOOD & CANCER (2009)
Lymphocytic Vasculitis Involving the Central Nervous System Occurs in Patients With X-Linked Lymphoproliferative Disease in the Absence of Epstein-Barr Virus Infection
Kawsar R. Talaat et al.
PEDIATRIC BLOOD & CANCER (2009)
Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes
Alexandra F. Freeman et al.
PEDIATRIC RESEARCH (2009)
Actin Isoform Expression Patterns During Mammalian Development and in Pathology: Insights From Mouse Models
Davina Tondeleir et al.
CELL MOTILITY AND THE CYTOSKELETON (2009)
An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome
Toni Pearson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI
Sanna Toiviainen-Salo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
Marjan Huizing et al.
Annual Review of Genomics and Human Genetics (2008)
ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation
Melanie Ehrlich et al.
AUTOIMMUNITY (2008)
Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex
T. J. Vulliamy et al.
BIOCHIMIE (2008)
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients
Barbara Cassani et al.
BLOOD (2008)
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
Manuela Germeshausen et al.
BLOOD (2008)
Reduced memory B cells in patients with hyper IgE syndrome
C. Speckmann et al.
CLINICAL IMMUNOLOGY (2008)
Chediak-Higashi syndrome
Jerry Kaplan et al.
CURRENT OPINION IN HEMATOLOGY (2008)
Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
Doron Gothelf et al.
DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2008)
The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective
Kevin M. Antshel et al.
DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2008)
Velo-cardio-facial syndrome: 30 Years of study
Robert J. Shprintzen
DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2008)
The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle
Sharon Biton et al.
DNA REPAIR (2008)
Omenn syndrome is associated with mutations in DNA ligase IV
Eyal Grunebaum et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2008)
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
Karyn M. Austin et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Central nervous system involvement in severe congenital neutropenia:: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
G. Carlsson et al.
JOURNAL OF INTERNAL MEDICINE (2008)
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1
Kimiko Deguchi et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
Brain cholesterol metabolism and neurologic disease
Eduardo E. Benarroch
NEUROLOGY (2008)
Good response to IL-1 ss blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies
C. M. Hedrich et al.
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY (2008)
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
Bilian Jin et al.
HUMAN MOLECULAR GENETICS (2008)
Dyskeratosis congenita: a genetic disorder of many faces
M. Kirwan et al.
CLINICAL GENETICS (2008)
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M. M. Hagleitner et al.
JOURNAL OF MEDICAL GENETICS (2008)
A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis
Hyun Woo Goo et al.
PEDIATRIC RADIOLOGY (2007)
Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome
Andrew R. Gennery et al.
PEDIATRICS (2007)
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
Sophia Delicou et al.
PEDIATRIC TRANSPLANTATION (2007)
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling
Grant S. Stewart et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
Lisa J. Kobrynski et al.
LANCET (2007)
A molecular classification of congenital neutropenia syndromes
Laurence A. Boxer et al.
PEDIATRIC BLOOD & CANCER (2007)
Association of HAX1 deficiency with neurological disorder
N. Rezaei et al.
NEUROPEDIATRICS (2007)
Novel insights from adaptor protein 3 complex deficiency
Raffaele Badolato et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
Primary immunodeficiency diseases:: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Raif S. Geha et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
Yenan T. Bryceson et al.
BLOOD (2007)
The clinical, immunohematological, and molecular study of iranian patients with severe congenital neutropenia
Nima Rezaei et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2007)
Neurologic abnormalities in patients with adenosine deaminase deficiency
Yehuda Nofech-Mozes et al.
PEDIATRIC NEUROLOGY (2007)
Update on the treatment of primary immunodeficiencies
J. M. Garcia et al.
ALLERGOLOGIA ET IMMUNOPATHOLOGIA (2007)
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
Yoshiyuki Minegishi et al.
NATURE (2007)
From genes to brain: Understanding brain development in neurogenetic disorders using neuroimaging techniques
Marie Schaer et al.
CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA (2007)
DNA double-strand break repair: From mechanistic understanding to cancer treatment
Thomas Helleday et al.
DNA REPAIR (2007)
What is the function of neuronal AP-3?
Lydia Danglot et al.
BIOLOGY OF THE CELL (2007)
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections
Ferda Ozkinay et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Genetic defects affecting lymphocyte cytotoxicity
Alain Fischer et al.
CURRENT OPINION IN IMMUNOLOGY (2007)
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
Manfred Hoenig et al.
BLOOD (2007)
Hematopoietic cell transplantation for Chediak-Higashi syndrome
M. Eapen et al.
BONE MARROW TRANSPLANTATION (2007)
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome
Nariaki Toita et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Neuronal and non-neuronal functions of the AP-3 sorting machinery
Karen Newell-Litwa et al.
JOURNAL OF CELL SCIENCE (2007)
Familial and acquired hemophagocytic lymphohistiocytosis
Gritta E. Janka
EUROPEAN JOURNAL OF PEDIATRICS (2007)
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
Jan-Inge Henter et al.
PEDIATRIC BLOOD & CANCER (2007)
Schimke immuno-osseous dysplasia:: a clinicopathological correlation
J. Marietta Clewing et al.
JOURNAL OF MEDICAL GENETICS (2007)
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
Bernd Gruhn et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Christoph Klein et al.
NATURE GENETICS (2007)
Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation
Nils Milman et al.
APMIS (2006)
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
Johannes Jung et al.
BLOOD (2006)
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
Anselm Enders et al.
BLOOD (2006)
Innate immunity defects in Hennansky-Pudlak type 2 syndrome
Stefania Fontana et al.
BLOOD (2006)
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Dorothea Haas et al.
ORPHANET JOURNAL OF RARE DISEASES (2006)
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV
Anselm Enders et al.
JOURNAL OF IMMUNOLOGY (2006)
Critical role for NALP3/CIAS1/cryopyrin in innate and adaptive immunity through its regulation of caspase-1
FS Sutterwala et al.
IMMUNITY (2006)
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Melanie Ehrlich et al.
ORPHANET JOURNAL OF RARE DISEASES (2006)
Schinike immuno-osseous dysplasia: A cell autonomous disorder?
LI Elizondo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
ML Wei
PIGMENT CELL RESEARCH (2006)
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
D Buck et al.
CELL (2006)
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
D Buck et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2006)
Shwachman - Diamond syndrome: UK perspective
GW Hall et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2006)
Ataxia-telangiectasia and related diseases
Pierre-Olivier Frappart et al.
NEUROMOLECULAR MEDICINE (2006)
Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase
DA Kaufman et al.
PEDIATRICS (2005)
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion
HS Xu et al.
DEVELOPMENT (2005)
A patient with mutations in DNA ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
TI Ben-Omran et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Molecular basis of ataxia telangiectasia and related diseases
LG Ball et al.
ACTA PHARMACOLOGICA SINICA (2005)
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome
M Tardieu et al.
BLOOD (2005)
Association of migraine-like headaches with schimke immuno-osseous dysplasia
SS Kilic et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Bone marrow transplantation for Nijmegan breakage syndrome
AR Gennery et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2005)
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity
J Feldmann et al.
BLOOD (2005)
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
U zur Stadt et al.
HUMAN MOLECULAR GENETICS (2005)
Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system
J Feng et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
Kostmann syndrome:: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells
G Carlsson et al.
BLOOD (2004)
Immunodeficiency and infections in ataxia-telangiectasia
A Nowak-Wegrzyn et al.
JOURNAL OF PEDIATRICS (2004)
Mevalonate kinase deficiency - Evidence for a phenotypic continuum
A Simon et al.
NEUROLOGY (2004)
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency
W Albuquerque et al.
JOURNAL OF PEDIATRICS (2004)
Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology
A Ruusala et al.
FEBS LETTERS (2004)
Ataxia-telangiectasia-like disorder (ATLD) - its clinical presentation and molecular basis
AMR Taylor et al.
DNA REPAIR (2004)
Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks
M Digweed et al.
DNA REPAIR (2004)
Ataxia-telangiectasia, an evolving phenotype
HH Chun et al.
DNA REPAIR (2004)
Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entity
ED Renner et al.
JOURNAL OF PEDIATRICS (2004)
Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway
R Kitagawa et al.
GENES & DEVELOPMENT (2004)
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
A Simon et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2004)
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
J Feldmann et al.
CELL (2003)
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease
M Ehrlich
CLINICAL IMMUNOLOGY (2003)
Lytic granules, secretory lysosomes and disease
R Clark et al.
CURRENT OPINION IN IMMUNOLOGY (2003)
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome
L Distel et al.
MEDICAL AND PEDIATRIC ONCOLOGY (2003)
Cholesterol homeostasis and function in neurons of the central nervous system
FW Pfrieger
CELLULAR AND MOLECULAR LIFE SCIENCES (2003)
Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI
F Tavani et al.
NEURORADIOLOGY (2003)
Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals
R Jaenisch et al.
NATURE GENETICS (2003)
Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency
B Tabarki et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Mevalonate kinase deficiency: Enlarging the clinical and biochemical spectrum
V Prietsch et al.
PEDIATRICS (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Repair of DNA double strand breaks by non-homologous end joining
SP Lees-Miller et al.
BIOCHIMIE (2003)
CARD15 mutations in familial granulomatosis syndromes
XJ Wang et al.
ARTHRITIS AND RHEUMATISM (2002)
Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome
J Frenkel et al.
ARTHRITIS AND RHEUMATISM (2002)
Molecular control of neuronal migration
HT Park et al.
BIOESSAYS (2002)
Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles
SL Shiflett et al.
PIGMENT CELL RESEARCH (2002)
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
J Feldmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
A Aiuti et al.
SCIENCE (2002)
Biology and treatment of familial hemophagocytic lymphohistiocytosis: Importance of perforin in lymphocyte-mediated cytotoxicity and triggering of apoptosis
JI Henter
MEDICAL AND PEDIATRIC ONCOLOGY (2002)
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
CF Boerkoel et al.
NATURE GENETICS (2002)
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
M Huizing et al.
PEDIATRIC RESEARCH (2002)
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency
C Baguette et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2002)
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
UHM Ziegner et al.
CLINICAL IMMUNOLOGY (2002)
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
M O'Driscoll et al.
MOLECULAR CELL (2001)
CARD15 mutations in Blau syndrome
C Miceli-Richard et al.
NATURE GENETICS (2001)
Neutrophil cytoskeletal disease
H Nunoi et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2001)
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
I Dalal et al.
CLINICAL GENETICS (2001)
TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome
S Merscher et al.
CELL (2001)
Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB
Y Ogura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The pathogenesis of ataxia-telangiectasia - Learning from a Rosetta Stone
RA Gatti et al.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2001)
Cerebral vasculitis in chronic mucocutaneous candidiasis: Autopsy case report
T Nagashima et al.
NEUROPATHOLOGY (2000)
ATM dependent apoptosis in the nervous system
Y Lee et al.
APOPTOSIS (2000)
Leukocyte adhesion deficiency II - from A to almost Z
A Etzioni et al.
IMMUNOLOGICAL REVIEWS (2000)
A case of Hoyeraal-Hreidarsson syndrome: Delayed myelination and hypoplasia of corpus callosum are other important signs
S Akaboshi et al.
NEUROPEDIATRICS (2000)
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
V Shotelersuk et al.
AMERICAN JOURNAL OF MEDICINE (2000)
Immunodeficiency caused by purine nucleoside phosphorylase deficiency
A Cohen et al.
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA (2000)
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
CF Boerkoel et al.
EUROPEAN JOURNAL OF PEDIATRICS (2000)
Share Paper
