Immunodeficiency with short-limbed dwarfism is a rare disease and only one patient was previously reported in Japan.
Two and 9/12 year old girl visited our hospital in July 1980, complaining of frequent respiratory infection and the growth retardation. In brief, physical examination revealed short stature at her age, height 66cm (Mean-7.3 S. D.)weight 6, 560 grm (Mean-4.3 S. D.), upper and lower segment ratio 1.64 (average 1.51). Moist rales were audible on bilateral lung field and bulged abdomen was observed. Her hair was thin and light colored. She had hyperextensibility of the fingers and deformed chest. X-ray film of the long bones revealed a marked osteoporosis and distal end flaring. No abnormal findings in endocrinological examinations were observed.
Immunological examination disclosed lymphopenia (932/mm3), normal B-lymphocyte count (EAC-RFC, 274/mm3)and low T-lymphocyte count (E-RFC, 93/mm3), normal levels of serum immunoglobulins (lgG, IgA, IgM, IgE), normal levels of isohemagglutinin titer, normal response to DPT vaccine. Negative delayed type hypersensitivity skin reaction to PPDs, Candida and SK-SD, very low 3H-TdR uptake of the patient lymphocytes stimulated by PHA were observed. PMN function tests were normal.
The patient was diagnosed Type II of Immunodeficiency with short-limbed dwarfism (cell-mediated immunodeficiency but intact antibody-mediated immunity)whose clinical and laboratory findings were similar to those of the patient previously reported in Japan.
The patient respiratory infection was well controlled with broad spectrum antibiotics and has been followed at the outpatient clinic.
