Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.

[omenn syndrome]

We report different immunological phenotypes in three siblings from consanguineous family with recombinase-activating gene 1 (RAG 1 ) gene mutations . Null mutations of RAG genes result in severe combined immunodeficiency (SCID ) with absent T and B cells . Hypomorphic mutations with retained activity of RAG genes may lead to a 'leaky ' SCID with some features of Omenn syndrome (OS ) or typical OS . In our three patients , homozygous , hypomorphic RAG 1 gene mutation (g .368 -369 delAA ) was detected . Two patients presented with T -B-SCID phenotype while the youngest patient developed T +B +NK +SCID phenotype with expansion of autologous T -cell receptor (TCR ) gammadelta-positive T cells , increased immunoglobulin levels and retained ability for antibody production . Similar to originally reported patients with this newly recognized immune phenotype , our patient developed disseminated cytomegalovirus (CMV ) infection and autoimmune cytopenia .In infants with disseminated cytomegalovirus infection and autoimmune cytopenia , even if basic immunologic investigation appears normal , RAG 1 immunodeficiency should be considered .

Diseases
Validation

Diseases presenting "immunodeficiency" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

cushing syndrome

dracunculiasis

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kabuki syndrome

legionellosis

malignant atrophic papulosis

oculocutaneous albinism

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

primary hyperoxaluria type 1

pyomyositis

severe combined immunodeficiency

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated