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
Validation

Diseases presenting "early diagnosis" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dentin dysplasia

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

erythropoietic protoporphyria

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kabuki syndrome

kallmann syndrome

kindler syndrome

krabbe disease

locked-in syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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