Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

Journal of Clinical Immunology

Volumn 35, Issue 4, 2015, Pages 348-355

  Niemela, Julie ^a   Kuehn, Hye Sun ^a   Kelly, Corin ^b   Zhang, Mingchang ^a   Davies, Joie ^b   Melendez, Jose ^c   Dreiling, Jennifer ^a   Kleiner, David ^a   Calvo, Katherine ^a   Oliveira, João B ^a,d   Rosenzweig, Sergio D ^a,b,e  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c Houston   (United States)

^d Instituto de Medicina Integral Prof Fernando Figueira IMIP   (United States)

^e Immunology Service Department of Laboratory Medicine NIHCC   (United States)

Author keywords

Autoimmune lymphoproliferative syndrome (ALPS); cranial palsy; lung transplant; lymphopenia; pulmonary hypertension

Indexed keywords

ANTIBIOTIC AGENT; CARBOXYFLUORESCEIN DIACETATE SUCCINIMIDYL ESTER; CASPASE 8; CD3 ANTIGEN; CD8 ANTIGEN; CORTICOSTEROID; FILGRASTIM; GENOMIC DNA; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 10; INTERLEUKIN 2; INTERLEUKIN 6; MYCOPHENOLIC ACID; PERFORIN; PREDNISONE; SILDENAFIL; STEROID; TACROLIMUS; TUMOR NECROSIS FACTOR ALPHA; CYTOKINE;

ABDOMINAL RADIOGRAPHY; ADULT; ANISOCORIA; APOPTOSIS; APPARENT LIFE THREATENING EVENT; ARTICLE; ASPIRATION PNEUMONIA; ASTHMA; AUTOIMMUNE DISEASE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; B LYMPHOCYTE; BONE MARROW BIOPSY; BRONCHIECTASIS; CASE REPORT; CASPASE 8 DEFICIENCY; CAUSE OF DEATH; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTOKINE RELEASE; DRUG MEGADOSE; DYSPHAGIA; DYSPNEA; ENZYME LINKED IMMUNOSORBENT ASSAY; EPSTEIN BARR VIRUS INFECTION; EXOME; FAILURE TO THRIVE; FEMALE; FEVER; FLOW CYTOMETRY; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GRANULOMA; HERPES SIMPLEX; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IMMUNE STATUS; IMMUNOBLOTTING; IMMUNOSUPPRESSIVE TREATMENT; INTERSTITIAL LUNG DISEASE; KARYOTYPE; LIVER BIOPSY; LUMBAR PUNCTURE; LUNG BIOPSY; LUNG INFECTION; LUNG TRANSPLANTATION; LYMPHADENOPATHY; LYMPHOCYTE ACTIVATION; LYMPHOCYTE PROLIFERATION; LYMPHOCYTIC INFILTRATION; MALE; MEDICAL HISTORY; MENINGOENCEPHALITIS; MIGRAINE; MYDRIASIS; NATURAL KILLER CELL; NERVE PARALYSIS; NEUROLOGIC DISEASE; NOCARDIA ASTEROIDES; PANCYTOPENIA; PLASMA CELL; PNEUMONIA; PRIORITY JOURNAL; PROTEIN SECRETION; PSEUDOMONAS AERUGINOSA; PULMONARY HYPERTENSION; RESPIRATORY BURST; SHORT STATURE; SPLEEN INJURY; SPLENOMEGALY; SPUTUM ANALYSIS; STAPHYLOCOCCUS AUREUS; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION; TRIGEMINUS NEURALGIA; BIOPSY; BIOSYNTHESIS; COMPLICATION; GENETICS; HEPATOMEGALY; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; IMMUNOLOGY; IMMUNOPHENOTYPING; LUNG; LYMPHOCYTE; METABOLISM; MUTATION; PATHOLOGY; SIBLING; X-RAY COMPUTED TOMOGRAPHY;

ADULT; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; BIOPSY; CASPASE 8; CYTOKINES; EXOME; FEMALE; GRANULOMA; HEPATOMEGALY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; IMMUNOPHENOTYPING; LUNG; LYMPHOCYTES; MALE; MUTATION; SIBLINGS; SPLENOMEGALY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84929843898     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0150-8     Document Type: Article

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