Name: Isolated growth hormone deficiency, type III with agammaglobulinemia | Acronym: IGHD3
Alt. names: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Gene: BTK | MOI: X-linked recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1994

Last updated on: 2023-03-20 14:06:04 by Laura Crisponi

OMIM: 307200

Orphanet: -

MONDO: 0010615

DOID: -

ClinGen: Disputed (2020-11-17)

Isolated growth hormone deficiency type III with agammaglobulinemia (IGHD3) is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone. Only few sporadic male cases have been reported so far with mutations in BTK, although the complete correlation of hypogammaglobulinemia and growth hormone deficiency inherited in an X-linked recessive pattern could not be addressed. PMID: 1880652; 7849697; 8013627. A newly discovered mutation in MEF (myeloid elf-1-like factor) might be responsible for the disease in a single family with four affected males and two obligate carrier females in three generations with no mutations in BTK or impaired function. PMID: 18180883

Antiinfectious prophylaxis, including gammaglobulins, sometimes with prophylactic antibiotics and early and aggressive treatment of infections may be beneficial; Live viral vaccines should be avoided; Recognition and treatment of growth hormone deficiency may be beneficial.