The various interventions recommended for<unk>  fall into three categories: family counseling, prevention of the disease's many complications, and bone marrow transplantation in an effort to restore<unk> -sufficient stem cells. However, due to the uncommonness of, and only recent appreciation for, the disease, standard phase 2 clinical trials to establish the efficacy of a , and/or non-drug treatment regiments against an appropriate placebo treatment regimen have not been reported. Family counseling Family members of an diagnosed with an inactivating<unk>  gene mutation should be told of their chances of having this mutation, advised of the consequences of this mutation, recommended to be tested for the mutation, warned that they are not suitable donors for any<unk>  deficient individual, and offered long term follow up of their mutation. Prevention of complications Recommendations for individuals exhibiting susceptibility to the infectious complications of<unk>  (e.g. MonoMAC-afflicted individuals) include: early vaccination for papillomavirus, early vaccination or prophylaxis drug treatment for nontuberculosus mycobacteria, and, perhaps, prophylaxis drug treatment (e.g. Azithromycin) for bacteria. Standard methods are recommended for the prevention of deep vein thrombosis and/or the embolism that occur in lymphedema of the lower extremities and for the blood hypercoagulability state complicating<unk>  insufficiency presentations such as the Emberger syndrome.<unk>  deficient individuals should be routinely monitored by: a) frequent complete blood counts and when indicated bone marrow examinations to detect progression of their disorder to more MDS or leukemia; b) and clinical evaluation of respiratory function and when indicated lung function tests to detect deterioration of lung function; and c) clinical evaluation analyses to determine the infection susceptibility, tumor formation, and the worsening function of other organs. Bone marrow transplantation Many authorities currently recommend<unk>  be treated by a moderately but not maximally aggressive myeloablative conditioning regimen to remove native bone marrow stem/progenitor cells followed by hematopoietic stem cell transplantation to repopulate the bone marrow with<unk>  sufficient stem cells. The use of this procedure should be anticipatory and occur before the development of a hyperellular bone marrow or a bone marrow or blood populated by an excess of progenitor cells (i.e. blast cells >2% to 5%). These developments are often followed by transformation of the disorder to a leukemia. This regiment should also be performed before the development of severe systemic infections, tumors, or deterioration in lung function. disease. While it takes up to 3.5 years for this regiment to fully re-institute good immune function, it significantly reduces susceptibility to infections and infection-induced tumor formation. The regimen also improves or normalizes lung function in cases of pulmonary alveolar proteinosis and pulmonary artery hypertension and may halt the progression or improve the function of other organs directly injured by<unk> . Clinical trials Many reports on the recommended treatment of<unk>  follow an NIH clinical trial termed "A Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant regimen for Patients With<unk>  Mutations". This trial used a regimen of medication (cyclophosphamide, fludarabine) and total body irradiation conditioning followed by allogenic hematopoietic Stem Cell Transplant on 10 patients. The trial had 8 disease-free survivors and obtained an overall survival 76 months with a range of 18 to 95 months. An NIH intervention study is in the process of recruiting and treating 144 individuals with<unk>  to determine the success of a treatment regimen consisting of medication (fludarabine, busulfan, cyclophosphamide) and total body irradiation conditioning followed by allogenic hematopoietic stem cell transplantation.
GATA2 deficiency
WNT4 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
CDK13-related disorder
LRBA deficiency
ZAP70 deficiency
1p36 deletion syndrome