Hypogammaglobulinaemia in a patient with ring chromosome 21.

[monosomy 21]

An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported . He presented with the characteristic features of monosomy 21 syndrome , such as psychomotor retardation , hypertonia , large saccular ears , prominent nasal bridge , micrognathia , thrombocytopenia , and patent ductus arteriosus . His serum IgG concentration was less than 1 .5 g /l at 3 years and 6 months of age after repeated hospitalisations with pneumonia , otitis media , and convulsions . Regular replacement of intravenous gammaglobulin effectively reduced such infectious episodes . A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin .

Diseases
Validation

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