Rare Diseases Symptoms Automatic Extraction

Terminal deletion of 11q with significant late-onset combined immune deficiency.

[22q11.2 deletion syndrome]

We report a 45-year old female adult patient with terminal deletion of chromosome 11q resulting in clinical phenotype of late-onset combined immunodeficiency.We describe the clinical phenotype and discuss the similarities between our patient and those with chromosome 22q11.2 deletion syndrome. Immunological evaluation included immunoglobulin levels, vaccine responses, number and function of T, NK and B cell subsets and comparative genomic hybridization test of blood and fibroblasts.The patient suffered from recurrent pneumococcal pneumonia and genital and cutaneous condylomas. She had a history of learning difficulties, dysmorphic features, autoimmune thyroiditis, chronic thrombocytopenia and severe asthma. We found Paris-Trousseau type thrombocytopenia, B-, T- and NK-lymphopenia, T cell oligoclonality and IgG hypogammaglobulinemia with inability to respond to pneumococcal polysaccharide, tetanus and diphtheria vaccines. A terminal deletion of chromosome 11q compatible with partial Jacobsen syndrome was found.This confirms Jacobsen syndrome as a chromosome deletion syndrome able to cause combined immunodeficiency.

Diseases presenting "pneumonia" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • classical phenylketonuria
  • cohen syndrome
  • congenital diaphragmatic hernia
  • heparin-induced thrombocytopenia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • oculocutaneous albinism
  • omenn syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • severe combined immunodeficiency
  • triple a syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated