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Variable presentation of primary immune deficiency: Two cases with CD 3 gamma deficiency presenting with only autoimmunity
Author(s) -
Tokgoz Huseyin,
Caliskan Umran,
Keles Sevgi,
Reisli İsmail,
Guiu Isabel Sánchez,
Morgan Neil V.
Publication year - 2013
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/pai.12063
Subject(s) - medicine , autoimmunity , presentation (obstetrics) , common variable immunodeficiency , immunology , immune system , immunologic deficiency syndromes , pediatrics , antibody , surgery
Background CD 3 chain expression defects including CD 3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies ( SCID ). The phenotype is usually T ‐ B + NK + SCID with lymphopenia where the clinical findings may be mild ( CD 3γ) or severe ( CD 3δ, ε, ζ) owing to the underlying molecular defect. There is limited information about the disease in literature. Methods Here, we present two siblings from non‐consanguineous family with autoimmunity including E vans syndrome, autoimmune hepatitis, nephrotic syndrome, and H ashimoto's thyroiditis and with no previous history of infections. To define the molecular basis of the disease, we performed linkage analysis around the CD 3 receptor cluster and found consistent linkage to this region. Results The patient one displayed low TCR αβ expression, low I g G , low I g A , low I g M , low CD 3, low CD 4, low CD 8. The patient two also displayed low TCR αβ expression and low anti‐ HB s titer. We went onto identify a homozygous splicing mutation ( IVS 2‐1 G > C ) in the two affected individuals in the CD 3γ gene. Discussion To date, only four cases have been reported with CD 3γ deficiency. Occasionally, the patients present with only autoimmunity including autoimmune hemolytic anemia, vitiligo, H ashimoto's thyroiditis, and autoimmune enteropathy. However, E vans syndrome, autoimmune hepatitis, and nephrotic syndrome have not been reported in previous cases. We believe that our cases will contribute to the literature.