Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.

[omenn syndrome]

Severe combined immunodeficiency (SCID ), including the 'variant ' Omenn syndrome (OS ), represent a heterogeneous group of monogenic disorders characterized by defect in differentiation of T - and /or B lymphocytes and susceptibility to infections since birth . In the period of 25 years , between January 1986 and December 2010 , a total of 21 patients (15 SCID , 6 OS ) were diagnosed in Mother & Child Health Institute of Serbia , a tertiary-care teaching University hospital and a national referral center for patients affected with primary immunodeficiency (PID ). The diagnoses were based on anamnestic data , clinical findings , and immunological and genetic analysis . The median age at the onset of the first infection was the 2nd month of life . Seven (33 %) patients had positive family history for SCID . Out of five male infants with T -B +NK- SCID phenotype , mutation analysis revealed interleukin-2 (common ) gamma-chain receptor (IL 2 RG ) mutations in 3 with positive X-linked family history , and Janus-kinase (JAK )-3 gene defects in the other two . Six patients had T -B-NK + SCID phenotype and further 6 features of OS , 11 of which had recombinase-activating gene (RAG 1 or RAG 2 ) and 1 Artemis gene mutations . One child with T +B +NK + SCID phenotype as well had proven RAG mutation . One child each with T -B +NK + SCID phenotype , CD 8 lymphopenia and unknown phenotype remained without known underlying genetic defect . Of the eight patients who underwent hematopoetic stem cell transplant (HSCT ) 5 survived , the other 13 died between 2 days and 12 months after diagnosis was made . Early diagnosis of SCID , before onset of severe infections , offers possibility for HSCT and cure . Education of primary -care pediatricians , in particular including awareness of the risk of using live vaccines and non-irradiated blood products , should improve prognosis of SCID in our setting .

Diseases
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Diseases presenting "first infection" symptom

omenn syndrome

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