Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene

Table 1 Summary of demographic, and clinical findings in Artemis deficiency

ID	Alive/dead	Cause of death	Age at diagnosis(m)	Age at onset (m)	Diagnostic delay (m)	Age at death (m)	Sex	Failure to thrive	Consanguinity of parent	Recurrent infections in family member
P1	Dead	Pulmonary hemorrhage	3	2	1	12	M	Negative	Positive	Negative
P2	Dead	Cardiopulmonary arrest	7	6	3	7	F	Negative	Positive	Negative
P3	Alive	–	19	15	4	–	F	Positive	Positive	Positive (older brother's death due to pneumonia at 3 years old
P4	Dead	Pneumonia	6	6	0	48	F	Negative	Negative	Negative
P5	Dead	Encephalitis	132	120	12	156	M	Negative	Positive	Negative
P6	Dead		10	8	2	12	M	Negative	Positive	Negative
P7	Dead	Sepsis	6	5	1	10	M	Negative	Negative	Negative
P8	Dead	Cardiopulmonary arrest	6	5	1	18	M	Negative	Positive	Negative
P9	Alive	–	22	19	3	–	M	Positive	Positive	Negative

ID	History of Abortion	Immunodeficiency disorders in family	First clinical feature	First clinical diagnosis	Site of infection	Relapse after treatment	Autoimmune disease	Allergic disease	Malignancy
P1	Once	Negative	Fever, otorrhea, cradle cap, skin rashes, scaling skin	Bilateral otitis media	Both ears	Positive	Negative	Anaphylaxis due to contrast dye, cow's milk intolerance	Negative
P2	Negative	Negative	Left axillary lymphadenopathy and lymph node abscess after BCG vaccination	BCG lymphadenitis	Left axillary lymph node	Negative	Negative	Cow's milk intolerance	Negative
P3	Twice (induced abortion)	Negative	Ulcer and vesicular lesions in mouth, throat, anus with low-grade fever, diarrhea, otorrhea, mastoiditis, otitis media	Mastoiditis and otitis media	Right ear	Positive	Negative	Negative	Negative
P4	Negative	Negative	Cough, fever, diarrhea	Pneumonia	Lungs	Negative	Negative	Negative	Negative
P5	Once	Negative	Diarrhea. cough, fever, otitis media, arthralgia	Pneumonia, otitis media	Lungs and both ears	Positive	juvenile idiopathic arthritis	Negative	Negative
P6	Negative	Negative	Diarrhea, cough,	Pneumonia	Lungs	Positive	Negative	Negative	Negative
P7	Negative	Negative	Fever, cough, diarrhea, lymphadenopathy, hepatosplenomegaly	Pneumonia	Lung and GI	Negative	Negative	Negative	Negative
P8	Negative	Negative	Axillary lymph node abscess and splenomegaly	BCGosis	Left axillary lymph node	Negative	Negative	Negative	Negative
P9	Once	Negative	Severe Diarrhea and FTT	Gastroenteritis	Intestine		ITP, Celiac disease	Negative	Negative

BCG, Bacilli Calmette-Guerin; FTT, failure to thrive; F, female; GI, gastrointestinal; ITP, immune thrombocytopenic purpura; M, male

ISSN: 1710-1492