Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency

Inclusion Criteria

• •Age of 4-35 years
• •Weight \>= 12 kilograms
• •DOCK8 deficiency with the two criteria listed below:
• •* Clinical history of one or more episodes of life-threatening or severely disfiguring infection with opportunistic organisms, including severe recurrent cutaneous and sinopulmonary infections with bacterial or fungal infection, or viral infections with herpes simplex, herpes zoster, Molluscum contagiosum, or human papilloma virus.
• •* Homozygous or compound heterozygous mutations in the DOCK8 gene performed by a CLIA-certified laboratory
• •Available 10/10 or 9/10 HLA-matched related or unrelated donor or a haploidentical related donor
• •Left ventricular ejection fraction \> 40%, preferably by 2-D echo. If the subject has radiological evidence of aortic, renal artery, or coronary artery vasculitis, a left ventricular ejection fraction \>30% is acceptable.
• •Pulmonary Function Tests: FEV1 \> 50% of expected
• •Note: For children who are unable to cooperate for PFTs, the criterion is: No evidence of dyspnea at rest, no exercise intolerance, and no requirement for supplemental oxygen therapy
• •Creatinine: Subjects: less than or equal to 2.0 mg/dl or creatinine clearance greater than or equal to 30 ml/min/1.73 m\^2. Pediatric subjects (\<18 years old): Creatinine less than or equal to 1.5 mg/dl or a creatinine clearance of greater than or equal to 30 mL/min/1.73 m\^2.
• •Serum total bilirubin \< 2.5 mg/dl; serum ALT and AST less than or equal to 5 times upper limit of normal.
• •Subjects, parents/guardian(s), legally authorized representatives (LAR), or durable power of attorney must be able to give consent and sign the informed consent document
• •Disease status: Subjects with malignancy are to be referred in remission for evaluation, except in the case of viral associated malignancies. Should a subject have progressive disease or a donor becomes unavailable after enrollment, the subject will be referred back to their primary hematologist-oncologist for treatment. If this course of action is not in the best interest of the subject according to the clinical judgment of the PI/LAI, then the subject may receive standard treatment for the malignant disease under the current study. If under either of these settings, it becomes apparent that the subject will not be able to proceed to transplant, then he/she must come off study. Recipient-Subjects receiving a standard therapy will be told about the therapy, associated risks, benefits alternatives of the proposed therapy, and availability of receiving the same treatment elsewhere, outside of a research protocol.
• •Parent/caregiver of a subject(s) who received a transplant for DOCK8 deficiency on this study.
• •Transplant recipient \>= 18 who has undergone a transplant for DOCK8 deficiency on this study.
• •Note: If a transplant recipient has completed follow-up or has come off study for any reason, re-enrollment will be permitted to complete the interview.
• •Must be able to give consent and sign the informed consent document.
• •Able to understand the English language
• •Caregiver participants are eligible for their own participation if their child (the patient) is between 4-25 years old and undergoing transplantation for DOCK8 deficiency on this study.
• •Patient participants are eligible for their own participation if 8 years old or older and undergoing transplantation for DOCK8 deficiency on this study.
• •Patient and caregiver participants must be cognitively able to complete the surveys and interviews.
• •Patient and caregiver participants must speak and/or read English or Spanish.
• •Patient and caregiver participants must be able to sign the informed consent or assent document, as applicable.